Fritz J. Sedlazeck

Also affiliated with Baylor Genetics, Rice University

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

47.2Author DataRank

Indexed papers

27in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 27 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

The complete sequence of a human genome

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.26.445798

Top 2%

8.2DataRank

Top 2%182 citations

Sergey Koren, Arang Rhie, Allison A. Regier, Andrey V. Bzikadze, Alla Mikheenko +97 more

Papers

Driven by 131 papers — median percentile 77. Top paper: “Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes”.

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

Nature Biotechnology(2020)10.1038/s41587-020-0503-6

N/A

12.8DataRank · unranked

655 citations

Trevor Pesout, Ryan Lorig-Roach, Marina Haukness, Hugh E. Olsen, Colleen M. Bosworth +27 more

A robust benchmark for detection of germline large deletions and insertions

Nature Biotechnology(2020)10.1038/s41587-020-0538-8

N/A

10.3DataRank · unranked

486 citations

Nancy F. Hansen, Nathan D. Olson, Lesley M. Chapman, James C. Mullikin, Chunlin Xiao +45 more

The complete sequence of a human genome

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.26.445798

Top 2%

8.2DataRank

Top 2%182 citations

Sergey Koren, Arang Rhie, Allison A. Regier, Andrey V. Bzikadze, Alla Mikheenko +97 more

The complete sequence of a human genome

Science(2022)10.1126/science.abj6987

Top 3%

7.0DataRank

Top 3%3361 citations

Sergey Koren, Arang Rhie, Allison A. Regier, Andrey V. Bzikadze, Alla Mikheenko +94 more

Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions

Nature Communications(2021)10.1038/s41467-021-21361-7

N/A

6.5DataRank · unranked

190 citations

Christopher Mozsary, Cem Meydan, Jonathan Foox, Joel Rosiene, Alon Shaiber +74 more

Chromosome-scale, haplotype-resolved assembly of human genomes

Nature Biotechnology(2020)10.1038/s41587-020-0711-0

N/A

5.3DataRank · unranked

207 citations

Arkarachai Fungtammasan, Mark J. P. Chaisson, Mike Chou, Anthony Schmitt, Xiang Zhou +18 more

Shotgun Transcriptome and Isothermal Profiling of SARS-CoV-2 Infection Reveals Unique Host Responses, Viral Diversification, and Drug Interactions

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.20.048066

N/A

5.1DataRank · unranked

96 citations

Christopher Mozsary, Cem Meydan, David Danko, Jonathan Foox, Joel Rosiene +47 more

Benchmarking challenging small variants with linked and long reads

Cell Genomics(2022)10.1016/j.xgen.2022.100128

Top 4%

4.9DataRank

Top 4%212 citations

Nathan D. Olson, Lindsay Harris, Ziad Khan, Jesse Farek, Medhat Mahmoud +36 more

A complete reference genome improves analysis of human genetic variation

Science(2022)10.1126/science.abl3533

Top 5%

4.4DataRank

Top 5%437 citations

Stephanie M. Yan, Daniela C. Soto, Melanie Kirsche, Samantha Zarate, Pavel Avdeyev +28 more

The complete sequence of a human Y chromosome

Nature(2023)10.1038/s41586-023-06457-y

Top 5%

4.1DataRank

Top 5%464 citations

Sergey Nurk, Mark J. P. Chaisson, Savannah J. Hoyt, Dylan J. Taylor, Nicolas Altemose +82 more

Discovery and population genomics of structural variation in a songbird genus

Nature Communications(2020)10.1038/s41467-020-17195-4

N/A

2.9DataRank · unranked

153 citations

Ignas Bunikis, Ana Catalán, Kees‐Jan Françoijs, Ulrich Knief, Wieland Heim +7 more

Benchmarking challenging small variants with linked and long reads

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.24.212712

Top 11%

2.0DataRank

Top 11%60 citations

Nathan D. Olson, Lindsay Harris, Jennifer McDaniel, Ziad Khan, Jesse Farek +37 more

A diploid assembly-based benchmark for variants in the major histocompatibility complex

Nature Communications(2020)10.1038/s41467-020-18564-9

Top 11%

2.0DataRank

Top 11%102 citations

Justin Wagner, Qiandong Zeng, Erik Garrison, Shilpa Garg, Arkarachai Fungtammasan +21 more

precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.13.380741

Top 11%

2.0DataRank

Top 11%67 citations

Justin Wagner, Jennifer McDaniel, Sarah H. Stephens, Samuel T. Westreich, Anish G. Prasanna +68 more

Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals

PLoS ONE(2021)10.1371/journal.pone.0244468

Top 12%

1.8DataRank

Top 12%37 citations

Sara Javornik Cregeen, Richard Sucgang, Qingchang Meng, Xiang Qin, Vasanthi Avadhanula +16 more

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

Genome Research(2024)10.1101/gr.279273.124

Top 13%

1.7DataRank

Top 13%78 citations

Sophia B Gibson, Nikhita Damaraju, Miranda Pg Zalusky, Kendra Hoekzema, David Twesigomwe +42 more

The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models

Cell(2023)10.1016/j.cell.2023.02.018

Top 15%

1.4DataRank

Top 15%82 citations

Jiahao Gao, Beatrice Borsari, Yucheng T. Yang, Timur R. Galeev, Gamze Gürsoy +95 more

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Nature Biotechnology(2019)10.1038/s41587-019-0217-9

N/A

1.1DataRank · unranked

1912 citations

Paul Peluso, William J. Rowell, Pi-Chuan Chang, Richard J. Hall, Gregory T. Concepcion +24 more

Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato

Cell(2020)10.1016/j.cell.2020.05.021

N/A

1.0DataRank · unranked

858 citations

Xingang Wang, Matthias Benoit, Sebastian Soyk, Lara Pereira, Lei Zhang +30 more

Genomic variant benchmark: if you cannot measure it, you cannot improve it

Genome biology(2023)10.1186/s13059-023-03061-1

Top 20%

1.0DataRank

Top 20%35 citations

Daniel Paiva Agustinho, Chen-Shan Chin, Fritz J. Sedlazeck, Medhat Mahmoud, Sina Majidian

The complete sequence of a human Y chromosome

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.01.518724

Top 22%

0.934DataRank

Top 22%42 citations

Sergey Nurk, Savannah J. Hoyt, Dylan J. Taylor, Nicolas Altemose, Paul W. Hook +79 more

Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment

GigaScience(2021)10.1093/gigascience/giab063

N/A

0.870DataRank · unranked

29 citations

Medhat Mahmoud, Viginesh Vaibhav Muraliraman, Fritz J. Sedlazeck, Todd J. Treangen, Yilei Fu

Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes

Cell Genomics(2024)10.1016/j.xgen.2024.100674

Top 25%

0.822DataRank

Top 25%31 citations

Erin Pleasance, Jeremy Fan, Vahid Akbari, Glenn Chang, Katherine Dixon +33 more

Structural variation across 138,134 samples in the TOPMed consortium

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.25.525428

Top 27%

0.737DataRank

Top 27%18 citations

Adam C. English, Ginger Metcalf, Jianzhi Yang, Mark J. P. Chaisson, Nathan Pankratz +82 more

TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.04.006

N/A

0.701DataRank · unranked

106 citations

Jonathan D. Rosen, Quan Sun, Jiawen Chen, Marsha M. Wheeler, Ying Zhou +20 more

Unveiling microbial diversity: harnessing long-read sequencing technology

Nature Methods(2024)10.1038/s41592-024-02262-1

N/A

0.695DataRank · unranked

102 citations

Yilei Fu, Vipin K. Menon, Ginger Metcalf, Todd J. Treangen, Fritz J. Sedlazeck +1 more

The Somatic Mosaicism across Human Tissues Network

Nature(2025)10.1038/s41586-025-09096-7

N/A

0.672DataRank · unranked

43 citations

Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Adam Voshall +365 more

A complete diploid human genome benchmark for personalized genomics

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.09.21.677443

Top 32%

0.611DataRank

Top 32%23 citations

Nathan Dwarshuis, Hyun Joo Ji, Arang Rhie, Hailey Loucks, Glennis A. Logsdon +60 more

Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus

GigaScience(2022)10.1093/gigascience/giac039

Top 33%

0.606DataRank

Top 33%15 citations

Muthuswamy Raveendran, Dustin T. Lyfoung, Fritz J. Sedlazeck, Medhat Mahmoud, Trent M. Prall +9 more

PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

Genome biology(2021)10.1186/s13059-021-02486-w

N/A

0.604DataRank · unranked

55 citations

HarshaVardhan Doddapaneni, Winston Timp, Fritz J. Sedlazeck, Medhat Mahmoud

Multiple genome alignment in the telomere-to-telomere assembly era

Genome biology(2022)10.1186/s13059-022-02735-6

N/A

0.596DataRank · unranked

52 citations

Advait Balaji, Fritz J. Sedlazeck, Michael Nute, Todd J. Treangen, Bryce Kille

Complex mosaic structural variations in human fetal brains

Genome Research(2020)10.1101/gr.262667.120

N/A

0.553DataRank · unranked

39 citations

Livia Tomasini, Christos Proukakis, Taejeong Bae, L. Manlove, Yeongjun Jang +10 more

A strategy for building and using a human reference pangenome

F1000Research(2021)10.12688/f1000research.19630.2

N/A

0.533DataRank · unranked

10 citations

Giuseppe Narzisi, Valérie Schneider, Peter A. Audano, Evan Biederstedt, Lon Blauvelt +35 more

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Genome Medicine(2024)10.1186/s13073-024-01411-7

N/A

0.474DataRank · unranked

17 citations

Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi +38 more

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 more

Profiling complex repeat expansions in RFC1 in Parkinson’s disease

npj Parkinson s Disease(2024)10.1038/s41531-024-00723-0

N/A

0.457DataRank · unranked

20 citations

Kensuke Daida, Abigail Miano‐Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan +16 more

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

Scientific Data(2025)10.1038/s41597-025-05438-2

Top 44%

0.421DataRank

Top 44%10 citations

Vaidehi Patel, Nathan D. Olson, Hua‐Jun He, Anthony Schmitt, Kenneth D. Cole +80 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0.416DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.24.538128

N/A

0.406DataRank · unranked

14 citations

Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh Nguyen, E. Newman +21 more

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Genome Research(2024)10.1101/gr.279346.124

N/A

0.396DataRank · unranked

13 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +17 more

A Hitchhiker's Guide to long-read genomic analysis

Genome Research(2025)10.1101/gr.279975.124

N/A

0.396DataRank · unranked

13 citations

Daniel Paiva Agustinho, Fritz J. Sedlazeck, Medhat Mahmoud

Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes

medRxiv(2024)10.1101/2024.02.20.24302959

Top 47%

0.389DataRank

Top 47%6 citations

Erin Pleasance, Jeremy Fan, Vahid Akbari, Glenn Chang, Katherine Dixon +32 more

Impact and characterization of serial structural variations across humans and great apes

Nature Communications(2024)10.1038/s41467-024-52027-9

N/A

0.385DataRank · unranked

12 citations

Tobias Rausch, Michael Jendrusch, Hufsah Ashraf, Peter A. Audano, Ola Austine +49 more

Unraveling the hidden complexity of cancer through long-read sequencing

Genome Research(2025)10.1101/gr.280041.124

N/A

0.360DataRank · unranked

10 citations

Ayse G. Keskus, Justin Wagner, Michal Izydorczyk, Winston Timp, Fritz J. Sedlazeck +5 more

Structural variation across 138,134 samples in the TOPMed consortium

Research Square(2023)10.21203/rs.3.rs-2515453/v1

N/A

0.345DataRank · unranked

9 citations

Adam C. English, Ginger Metcalf, Jianzhi Yang, Mark J. P. Chaisson, Nathan Pankratz +82 more

Characterizing the genetic polymorphisms in 370 challenging medically relevant genes using long-read sequencing data from 41 human individuals among 19 global populations

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.08.03.502734

Top 51%

0.343DataRank

Top 51%7 citations

Jiao Gong, Fritz J. Sedlazeck, Shaohua Fan, Yanfeng Ji

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.09.18.613544

Top 54%

0.314DataRank

Top 54%6 citations

Vaidehi Patel, Nathan D. Olson, Hua‐Jun He, Kenneth D. Cole, Alexander A. Gooden +78 more

Clair3-RNA: a deep learning-based small variant caller for long-read RNA sequencing data

Nature Communications(2025)10.1038/s41467-025-67237-y

N/A

0.312DataRank · unranked

7 citations

Xian Yu, Lei Chen, Yan-Lam Lee, Cheng Xin, Angel On Ki Wong +5 more

Small variant benchmark from a complete assembly of X and Y chromosomes

Nature Communications(2025)10.1038/s41467-024-55710-z

Top 54%

0.312DataRank

Top 54%7 citations

Nathan D. Olson, Jennifer McDaniel, Lindsay Harris, Brendan J. Pinto, David Jáspez +22 more

Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program

medRxiv(2021)10.1101/2021.12.16.21267871

N/A

0.292DataRank · unranked

6 citations

Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter, Jia Wen +54 more

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363

N/A

0.269DataRank · unranked

5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

De Novo Genome Assembly for the Coppery Titi Monkey (Plecturocebus cupreus): An Emerging Nonhuman Primate Model for Behavioral Research

Genome Biology and Evolution(2024)10.1093/gbe/evae108

Top 60%

0.251DataRank

Top 60%4 citations

Alexander Baxter, Logan E. Savidge, Fritz J. Sedlazeck, Karen L. Bales, Susanne P. Pfeifer

Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.05.451071

Top 60%

0.248DataRank

Top 60%3 citations

Muthuswamy Raveendran, Dustin T. Lyfoung, Fritz J. Sedlazeck, Medhat Mahmoud, Trent M. Prall +9 more

Impact and characterization of serial structural variations across humans and great apes

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.09.531868

N/A

0.211DataRank · unranked

2 citations

Tobias Rausch, Peter Ebert, Jan O. Korbel, Fritz J. Sedlazeck, Wolfram Höps

Fixing reference errors efficiently improves sequencing results

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.07.18.500506

Top 65%

0.208DataRank

Top 65%3 citations

Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F. Paulin, Jesse Farek +7 more

Global DNA methylation differences involving germline structural variation impact gene expression in pediatric brain tumors

Nature Communications(2025)10.1038/s41467-025-60110-y

N/A

0.208DataRank · unranked

3 citations

Yiqun Zhang, Wei Li, Fritz J. Sedlazeck, Lanlan Shen, Chad J. Creighton +1 more

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

F1000Research(2021)10.12688/f1000research.51477.1

N/A

0.208DataRank · unranked

3 citations

Medhat Mahmoud, Michael D. Jochum, Daniel Paiva Agustinho, Barry Zorman, Ahmad Al Khleifat +57 more

Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

medRxiv(2024)10.1101/2024.11.11.24317113

N/A

0.208DataRank · unranked

3 citations

Ester Kalef-Ezra, Dominic W. Horner, Xinchang Zheng, Nadine Holmes, Marco Toffoli +8 more

Single-cell somatic copy number variants in brain using different amplification methods and reference genomes

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.08.07.552289

N/A

0.165DataRank · unranked

2 citations

Zeliha Gözde Turan, Diego Pérez‐Rodríguez, Ida Bomann, Sairam Behera, Caoimhe Morley +6 more

Sixth Annual BCM Hackathon on Structural Variation and Pangenomics

F1000Research(2025)10.12688/f1000research.170665.1

N/A

0.104DataRank · unranked

1 citations

Bishnu Adhikar, Shaghayegh Beheshti, Sarah Fross, Jędrzej Kubica, Jen‐Yu Wang +49 more

Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

npj Parkinson s Disease(2024)10.1038/s41531-024-00749-4

N/A

0.104DataRank · unranked

1 citations

Kensuke Daida, Francis P. Grenn, Laksh Malik, Abigail Miano‐Burkhardt, Mary B. Makarious +17 more

Germline structural variations involving the pediatric brain tumor transcriptome include disease-relevant and ancestry-related genes

Acta Neuropathologica Communications(2025)10.1186/s40478-025-02098-6

N/A

0.104DataRank · unranked

1 citations

Yiqun Zhang, Luis F. Paulin, Fritz J. Sedlazeck, Chad J. Creighton, Fengju Chen

Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractions

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.09.18.677206

N/A

0DataRank · unranked

5 citations

Adam C. English, Luis F. Paulin, Christopher M. Grochowski, Surabhi Maheshwari, Taralynn Mack +7 more

Long reads decipher genomes and transcriptomes and offer novel insights into biology and diseases

Genome Research(2025)10.1101/gr.280665.125

N/A

0DataRank · unranked

0 citations

Alexander Hoischen, Fritz J. Sedlazeck, Ana Conesa

Evolutionary dynamics of Respiratory Syncytial Virus in pre-pandemic, pandemic, and post-pandemic periods in Houston, Texas, USA

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.08.06.668939

N/A

0DataRank · unranked

0 citations

Daniel Paiva Agustinho, Leila C. Sahni, Anil Surathu, David Henke, HarshaVardhan Doddapaneni +12 more

Constellation illuminates rare disease genetics

medRxiv(2025)10.1101/2025.10.15.25337675

N/A

0DataRank · unranked

0 citations

Qing Zhang, Xinchang Zheng, Shalini N. Jhangiani, Jacqueline Weir, Jesse Farek +15 more

Enriching for Answers in Rare Diseases

medRxiv(2025)10.1101/2025.10.21.25338483

N/A

0DataRank · unranked

0 citations

Adam C. English, Luis F. Paulin, Shalini N. Jhangiani, George Weissenberger, Vanessa Vee +7 more

Benchmark for simple and complex genome inversions

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.11.28.691176

N/A

0DataRank · unranked

0 citations

Fritz J. Sedlazeck, Siyuan Cheng

MosaicSim: A Novel Mosaic Variant Simulator Reveals Diminishing Returns of Ultra-High Coverage for Mosaic Variant Detection

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.64898/2025.12.03.692191

N/A

0DataRank · unranked

0 citations

Farhang Jaryani, Michal Izydorczyk, Chi-Lam Poon, Philippe Sanio, Adam Alexander +5 more

Scalable and comprehensive mosaic variant calling using DRAGEN

10.64898/2026.02.03.26345450

N/A

0DataRank · unranked

0 citations

Massimiliano Rossi, Yina Wang, Michal Izydorczyk, Duke Tran, Clifton L Dalgard +19 more

PhaseME: Automatic rapid assessment of phasing quality and phasing improvement

GigaScience(2020)10.1093/gigascience/giaa078

N/A

0DataRank · unranked

18 citations

Fritz J. Sedlazeck, Sina Majidian

Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing

Genome Research(2020)10.1101/gr.260497.119

N/A

0DataRank · unranked

110 citations

Sara Goodwin, Rachel M. Sherman, Fritz J. Sedlazeck, Gayatri Arun, Sonam Bhatia +10 more

Hidden genomic diversity of SARS-CoV-2: implications for qRT-PCR diagnostics and transmission

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.02.184481

N/A

0DataRank · unranked

16 citations

Medhat Mahmoud, Michael D. Jochum, Yunxi Liu, R. A. Leo Elworth, Qi Wang +15 more

High resolution copy number inference in cancer using short-molecule nanopore sequencing

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.12.28.424602

N/A

0DataRank · unranked

8 citations

Sam Kovaka, Fritz J. Sedlazeck, Yanming Zhang, Robert Wappel, Scott W. Lowe +3 more

SVCollector: Optimized sample selection for cost-efficient long-read population sequencing

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.06.240390

N/A

0DataRank · unranked

3 citations

Zachary H. Lemmon, Sebastian Soyk, Sergey Aganezov, William Salerno, Rajiv C. McCoy +4 more

Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

F1000Research(2020)10.12688/f1000research.23773.1

N/A

0DataRank · unranked

0 citations

Alejandro R. Gener, Michael M. Khayat, Adam C. English, Advait Balaji, Anbo Zhou +41 more

Towards population-scale long-read sequencing

Nature Reviews Genetics(2021)10.1038/s41576-021-00367-3

N/A

0DataRank · unranked

358 citations

Matthias H. Weissensteiner, Fritz J. Sedlazeck, Wouter De Coster

Hidden biases in germline structural variant detection

Genome biology(2021)10.1186/s13059-021-02558-x

N/A

0DataRank · unranked

42 citations

Sayed Mohammad Ebrahim Sahraeian, Samantha Zarate, Andrew Carroll, Huixiao Hong, Bohu Pan +6 more

High resolution copy number inference in cancer using short-molecule nanopore sequencing

Nucleic Acids Research(2021)10.1093/nar/gkab812

N/A

0DataRank · unranked

24 citations

Sam Kovaka, Fritz J. Sedlazeck, Yanming Zhang, Robert Wappel, Sha Tian +4 more

muCNV: genotyping structural variants for population-level sequencing

Bioinformatics(2021)10.1093/bioinformatics/btab199

N/A

0DataRank · unranked

11 citations

Fritz J. Sedlazeck, Qihui Zhu, Adam C. English, Ginger Metcalf, Hyun Min Kang +4 more

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease

Movement Disorders(2021)10.1002/mds.28616

N/A

0DataRank · unranked

6 citations

Abigail Higgins, Chiao‐Yin Lee, Sofia Koletsi, Xiao Chen, Michael A. Eberle +5 more

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

F1000Research(2021)10.12688/f1000research.51477.2

N/A

0DataRank · unranked

2 citations

Medhat Mahmoud, Michael D. Jochum, Daniel Paiva Agustinho, Barry Zorman, Ahmad Al Khleifat +57 more

SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission

Genome Research(2021)10.1101/gr.268961.120

N/A

0DataRank · unranked

55 citations

Medhat Mahmoud, Michael D. Jochum, Yunxi Liu, R. A. Leo Elworth, Qi Wang +15 more

Optimized sample selection for cost-efficient long-read population sequencing

Genome Research(2021)10.1101/gr.264879.120

N/A

0DataRank · unranked

9 citations

Zachary H. Lemmon, Sebastian Soyk, Sergey Aganezov, William Salerno, Rajiv C. McCoy +4 more

Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.29.446291

N/A

0DataRank · unranked

4 citations

Medhat Mahmoud, Viginesh Vaibhav Muraliraman, Fritz J. Sedlazeck, Todd J. Treangen, Yilei Fu

SVhound: Detection of future Structural Variation hotspots

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.04.09.439237

N/A

0DataRank · unranked

0 citations

Muthuswamy Raveendran, R. Alan Harris, Jeffrey Rogers, Arndt von Haeseler, Fritz J. Sedlazeck +1 more

Truvari: refined structural variant comparison preserves allelic diversity

Genome biology(2022)10.1186/s13059-022-02840-6

N/A

0DataRank · unranked

234 citations

Vipin K. Menon, Richard A. Gibbs, Ginger Metcalf, Fritz J. Sedlazeck, Adam C. English

Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

Nature Biotechnology(2022)10.1038/s41587-022-01221-5

N/A

0DataRank · unranked

121 citations

John E. Gorzynski, Kishwar Shafin, Dianna G. Fisk, Trevor Pesout, Tanner Jensen +24 more

Towards accurate and reliable resolution of structural variants for clinical diagnosis

Genome biology(2022)10.1186/s13059-022-02636-8

N/A

0DataRank · unranked

89 citations

Ruth Roberts, Tim R. Mercer, Joshua Xu, Fritz J. Sedlazeck, Weida Tong +1 more

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

Communications Biology(2022)10.1038/s42003-022-03610-7

N/A

0DataRank · unranked

59 citations

Xiao CHEN, Fritz J. Sedlazeck, Chiao‐Yin Lee, Stephen Mullin, Abigail Higgins +8 more

Assessing reproducibility of inherited variants detected with short-read whole genome sequencing

Genome biology(2022)10.1186/s13059-021-02569-8

N/A

0DataRank · unranked

56 citations

Luyao Ren, Vitor Onuchic, Meijian Guan, Rebecca Kusko, Steve Bruinsma +50 more

Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

Nature Communications(2022)10.1038/s41467-022-35354-7

N/A

0DataRank · unranked

18 citations

Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter, Jia Wen +54 more

Searching thousands of genomes to classify somatic and novel structural variants using STIX

Nature Methods(2022)10.1038/s41592-022-01423-4

N/A

0DataRank · unranked

13 citations

Brent S. Pedersen, Fritz J. Sedlazeck, Aaron R. Quinlan, Ryan M. Layer, Murad Chowdhury

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.04.487055

N/A

0DataRank · unranked

97 citations

Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera +9 more

A pan-genome approach to decipher variants in the highly complex tandem repeat of LPA

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.08.495395

N/A

0DataRank · unranked

11 citations

Sairam Behera, Ginger Metcalf, Richard A. Gibbs, Eric Boerwinkle, Fritz J. Sedlazeck +1 more

Improved sequence mapping using a complete reference genome and lift-over

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.27.489683

N/A

0DataRank · unranked

6 citations

Luis F. Paulin, Fritz J. Sedlazeck, Sergey Koren, Adam M. Phillippy, Ben Langmead +1 more

Intratumoral heterogeneity and clonal evolution induced by HPV integration

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.08.11.503647

N/A

0DataRank · unranked

6 citations

David E. Symer, Medhat Mahmoud, Bo Jiang, Sarah Goodwin, Darawalee Wangsa +8 more

Multiscale Analysis of Pangenome Enables Improved Representation of Genomic Diversity For Repetitive And Clinically Relevant Genes

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.08.05.502980

N/A

0DataRank · unranked

5 citations

Sairam Behera, Asif Khalak, Fritz J. Sedlazeck, Justin Wagner, Justin M. Zook +1 more

Read2Tree: scalable and accurate phylogenetic trees from raw reads

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.18.488678

N/A

0DataRank · unranked

0 citations

Adrian Altenhoff, Sina Majidian, Fritz J. Sedlazeck, Christophe Dessimoz, David Dylus

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

Nature Methods(2023)10.1038/s41592-023-01993-x

N/A

0DataRank · unranked

143 citations

Kimberley J. Billingsley, Mira Mastoras, Melissa Meredith, Jean Monlong, Ryan Lorig-Roach +25 more

Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree

Nature Biotechnology(2023)10.1038/s41587-023-01753-4

N/A

0DataRank · unranked

55 citations

Adrian Altenhoff, Sina Majidian, Fritz J. Sedlazeck, Christophe Dessimoz, David Dylus

Genome‐Wide Analysis of Structural Variants in Parkinson Disease

Annals of Neurology(2023)10.1002/ana.26608

N/A

0DataRank · unranked

37 citations

Jinhui Ding, Pilar Álvarez Jerez, Anastasia Illarionova, Kristin Levine, Francis P. Grenn +35 more

Improved sequence mapping using a complete reference genome and lift-over

Nature Methods(2023)10.1038/s41592-023-02069-6

N/A

0DataRank · unranked

30 citations

Luis F. Paulin, Fritz J. Sedlazeck, Sergey Koren, Adam M. Phillippy, Ben Langmead +1 more

FixItFelix: improving genomic analysis by fixing reference errors

Genome biology(2023)10.1186/s13059-023-02863-7

N/A

0DataRank · unranked

27 citations

Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F. Paulin, Jesse Farek +7 more

Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance

Virus Evolution(2023)10.1093/ve/vead086

N/A

0DataRank · unranked

11 citations

Daniel Paiva Agustinho, Vipin K. Menon, Roy F. Chemaly, Dimpy P. Shah, Xiang Qin +10 more

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.12.523790

N/A

0DataRank · unranked

31 citations

Kimberley J. Billingsley, Mira Mastoras, Melissa Meredith, Jean Monlong, Ryan Lorig-Roach +25 more

Benchmarking of small and large variants across tandem repeats

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.10.29.564632

N/A

0DataRank · unranked

17 citations

Egor Dolzhenko, Helyaneh Ziaei Jam, Sean K. McKenzie, Nathan D. Olson, Wouter De Coster +9 more

Sniffles2 methods v1

(2023)10.17504/protocols.io.14egn34qyl5d/v1

N/A

0DataRank · unranked

1 citations

Luis F. Paulin, Fritz J. Sedlazeck, Moritz Smolka

SVhound: detection of regions that harbor yet undetected structural variation

BMC Bioinformatics(2023)10.1186/s12859-022-05046-6

N/A

0DataRank · unranked

0 citations

Muthuswamy Raveendran, R. Alan Harris, Jeffrey Rogers, Arndt von Haeseler, Fritz J. Sedlazeck +1 more

Detection of mosaic and population-level structural variants with Sniffles2

Nature Biotechnology(2024)10.1038/s41587-023-02024-y

N/A

0DataRank · unranked

448 citations

Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera +9 more

Characterization and visualization of tandem repeats at genome scale

Nature Biotechnology(2024)10.1038/s41587-023-02057-3

N/A

0DataRank · unranked

128 citations

Adam C. English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J. Rowell +18 more

Comprehensive genome analysis and variant detection at scale using DRAGEN

Nature Biotechnology(2024)10.1038/s41587-024-02382-1

N/A

0DataRank · unranked

110 citations

Severine Catreux, Massimiliano Rossi, Sean Truong, Zhuoyi Huang, Michael Ruehle +12 more

Utility of long-read sequencing for All of Us

Nature Communications(2024)10.1038/s41467-024-44804-3

N/A

0DataRank · unranked

106 citations

Yongqing Huang, Kiran Garimella, Peter A. Audano, W. Wan, Nripesh Prasad +9 more

Analysis and benchmarking of small and large genomic variants across tandem repeats

Nature Biotechnology(2024)10.1038/s41587-024-02225-z

N/A

0DataRank · unranked

67 citations

Egor Dolzhenko, Helyaneh Ziaei Jam, Sean K. McKenzie, Nathan D. Olson, Wouter De Coster +9 more

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Cell Genomics(2024)10.1016/j.xgen.2024.100590

N/A

0DataRank · unranked

33 citations

Jesse D. Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G. Mehaffey +22 more

MethPhaser: methylation-based long-read haplotype phasing of human genomes

Nature Communications(2024)10.1038/s41467-024-49588-0

N/A

0DataRank · unranked

22 citations

Sergey Aganezov, Medhat Mahmoud, John Beaulaurier, Sissel Juul, Todd J. Treangen +2 more

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

BMC Medical Genomics(2024)10.1186/s12920-024-02024-0

N/A

0DataRank · unranked

10 citations

Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh Nguyen, Emma Newman +21 more

Single-cell somatic copy number variants in brain using different amplification methods and reference genomes

Communications Biology(2024)10.1038/s42003-024-06940-w

N/A

0DataRank · unranked

8 citations

Zeliha Gözde Turan, Diego Pérez‐Rodríguez, Ida Bomann, Sairam Behera, Caoimhe Morley +6 more

Germline structural variation globally impacts the cancer transcriptome including disease-relevant genes

Cell Reports Medicine(2024)10.1016/j.xcrm.2024.101446

N/A

0DataRank · unranked

7 citations

Yiqun Zhang, Fritz J. Sedlazeck, Chad J. Creighton, Fengju Chen

Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.02.573821

N/A

0DataRank · unranked

39 citations

Severine Catreux, Massimiliano Rossi, Sean Truong, Zhuoyi Huang, Michael Ruehle +11 more

Closing the gap: Solving complex medically relevant genes at scale

medRxiv(2024)10.1101/2024.03.14.24304179

N/A

0DataRank · unranked

11 citations

John Harting, Holly Corbitt, Xiao Chen, Shalini N. Jhangiani, HarshaVardhan Doddapaneni +19 more

Clair3-RNA: A deep learning-based small variant caller for long-read RNA sequencing data

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.11.17.624050

N/A

0DataRank · unranked

10 citations

Xian Yu, Lei Chen, Yan-Lam Lee, Xin Cheng, Angel On Ki Wong +5 more

The benefit of a complete reference genome for cancer structural variant analysis

medRxiv(2024)10.1101/2024.03.15.24304369

N/A

0DataRank · unranked

4 citations

Jeremy Fan, Kieran O’Neill, Erin Pleasance, Vanessa Porter, Steven J.M. Jones +2 more

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

medRxiv(2024)10.1101/2024.04.22.24305780

N/A

0DataRank · unranked

1 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +14 more

K-mer analysis of long-read alignment pileups for structural variant genotyping

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.10.22.619642

N/A

0DataRank · unranked

1 citations

Fabio Cunial, Ginger Metcalf, Richard A. Gibbs, Fritz J. Sedlazeck, Adam C. English

Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations

Molecular Genetics and Genomics(2024)10.1007/s00438-024-02158-x

N/A

0DataRank · unranked

0 citations

Junfan Zhao, Jiao Gong, Fritz J. Sedlazeck, Shaohua Fan, Yanfeng Ji

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

UNC Libraries(2024)10.17615/0jmh-f540

N/A

0DataRank · unranked

0 citations

Michael A. Eberle, Xiao Chen, Richard A. Gibbs, Emma Newman, Massimiliano Rossi +21 more

Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility

Nature Communications(2025)10.1038/s41467-025-56661-9

N/A

0DataRank · unranked

11 citations

Huiru Sun, Kaiyuan Wang, Zhao Yanhui, Yechao Huang, Qinsheng Chen +23 more

Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

Communications Biology(2025)10.1038/s42003-025-08805-2

N/A

0DataRank · unranked

4 citations

Ester Kalef-Ezra, Dominic W. Horner, Xinchang Zheng, Nadine Holmes, Marco Toffoli +10 more

K-mer analysis of long-read alignment pileups for structural variant genotyping

Nature Communications(2025)10.1038/s41467-025-58577-w

N/A

0DataRank · unranked

6 citations

Fabio Cunial, Ginger Metcalf, Richard A. Gibbs, Fritz J. Sedlazeck, Adam C. English

Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

Genome Research(2025)10.1101/gr.279352.124

N/A

0DataRank · unranked

7 citations

Jeremy Fan, Kieran O’Neill, Erin Pleasance, Vanessa Porter, Steven J.M. Jones +2 more

Fritz J. Sedlazeck

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