Konrad J. Karczewski

Also affiliated with Northeastern University, Foundation Center, Massachusetts General Hospital, Novo Nordisk (United States)

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

51.0Author DataRank

Indexed papers

11in 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 11 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.

Analysis of protein-coding genetic variation in 60,706 humans

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 more

Papers

Driven by 59 papers — median percentile 92. Top paper: “Analysis of protein-coding genetic variation in 60,706 humans”.

Analysis of protein-coding genetic variation in 60,706 humans

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 more

Genetic effects on gene expression across human tissues

Nature(2017)10.1038/nature24277

Top 1%

10.1DataRank

Top 1%4706 citations

Barbara E. Engelhardt, Stephen B. Montgomery, Sara Mostafavi, Ayellet V. Segrè, Hailei Zhang +227 more

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

PLoS Genetics(2011)10.1371/journal.pgen.1002280

N/A

7.5DataRank · unranked

148 citations

Rong Chen, Sergio P. Cordero, Kelly E. Ormond, Colleen Caleshu, Konrad J. Karczewski +33 more

Rare coding variants in ten genes confer substantial risk for schizophrenia

Nature(2022)10.1038/s41586-022-04556-w

N/A

7.2DataRank · unranked

900 citations

Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa, Jack D. Barchas +95 more

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Nature Communications(2015)10.1038/ncomms9111

Top 3%

6.7DataRank

Top 3%386 citations

Bryan Howie, Shane McCarthy, Yasin Memari, Klaudia Walter, Josine L. Min +234 more

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Nature Communications(2020)10.1038/s41467-019-12438-5

N/A

5.6DataRank · unranked

143 citations

James Zou, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier +174 more

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nature Communications(2020)10.1038/s41467-019-10717-9

N/A

5.2DataRank · unranked

191 citations

Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans +181 more

The effect of LRRK2 loss-of-function variants in humans

Nature Medicine(2020)10.1038/s41591-020-0893-5

N/A

4.9DataRank · unranked

114 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric V. Minikel, Julia K. Goodrich +214 more

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036

Top 5%

4.7DataRank

Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

Systematic functional regulatory assessment of disease-associated variants

Proceedings of the National Academy of Sciences(2013)10.1073/pnas.1219099110

N/A

3.7DataRank · unranked

95 citations

Joel T. Dudley, Kimberly R. Kukurba, Rong Chen, Atul Janardhan Butte, Stephen B. Montgomery +2 more

Genetic effects on gene expression across human tissues

UNC Libraries(2020)10.17615/p82n-gb73

Top 8%

2.6DataRank

Top 8%63 citations

Yuan He, Lin Chen, Emmanouil T. Dermitzakis, Philip A. Branton, Andrew B. Nobel +95 more

A harmonized public resource of deeply sequenced diverse human genomes

Genome Research(2024)10.1101/gr.278378.123

Top 8%

2.6DataRank

Top 8%130 citations

Mary T. Yohannes, Lethukuthula L. Nkambule, Xuefang Zhao, Julia K. Goodrich, Heesu Ally Kim +16 more

An open resource of structural variation for medical and population genetics

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/578674

Top 9%

2.2DataRank

Top 9%44 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +37 more

A cross-disorder dosage sensitivity map of the human genome

medRxiv(2021)10.1101/2021.01.26.21250098

N/A

2.0DataRank · unranked

54 citations

Joseph Glessner, Eleonora Porcu, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Georgios Kellaris +28 more

A harmonized public resource of deeply sequenced diverse human genomes

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.23.525248

Top 13%

1.6DataRank

Top 13%48 citations

Mary T. Yohannes, Lethukuthula L. Nkambule, Xuefang Zhao, Julia K. Goodrich, Heesu Ally Kim +16 more

Landscape of X chromosome inactivation across human tissues

bioRxiv (Cold Spring Harbor Laboratory)(2016)10.1101/073957

N/A

1.6DataRank · unranked

52 citations

Angela Yen, Manuel A. Rivas, Jamie L. Marshall, Rahul Satija, Laura Gauthier +17 more

The mutational constraint spectrum quantified from variation in 141,456 humans

Nature(2020)10.1038/s41586-020-2308-7

N/A

1.4DataRank · unranked

9958 citations

Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang +187 more

Annotation of functional variation in personal genomes using RegulomeDB

Genome Research(2012)10.1101/gr.137323.112

N/A

1.2DataRank · unranked

2839 citations

Eurie L. Hong, Manoj Hariharan, Yong Cheng, Marc A. Schaub, Madhura Kadaba +7 more

Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

Cell(2012)10.1016/j.cell.2012.02.009

N/A

1.1DataRank · unranked

1301 citations

George I. Mias, Jennifer Li-Pook-Than, Lihua Jiang, Rong Chen, Elana Miriami +42 more

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/561472

N/A

0.977DataRank · unranked

17 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric Vallabh Minikel, Konrad J. Karczewski +35 more

Performance comparison of exome DNA sequencing technologies

Nature Biotechnology(2011)10.1038/nbt.1975

N/A

0.941DataRank · unranked

528 citations

Rui Chen, Hugo Y. K. Lam, Konrad J. Karczewski, Rong Chen, Ghia Euskirchen +3 more

Erratum: Corrigendum: Landscape of X chromosome inactivation across human tissues

Nature(2018)10.1038/nature25993

N/A

0.905DataRank · unranked

15 citations

Angela Yen, Manuel A. Rivas, Jamie L. Marshall, Rahul Satija, Laura Gauthier +17 more

Effect of predicted protein-truncating genetic variants on the human transcriptome

Science(2015)10.1126/science.1261877

N/A

0.877DataRank · unranked

345 citations

Matti Pirinen, Donald F. Conrad, Monkol Lek, Emily K. Tsang, Konrad J. Karczewski +206 more

Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

eLife(2021)10.7554/elife.68610

N/A

0.809DataRank · unranked

26 citations

Konrad J. Karczewski, Daniel P. Howrigan, Benjamin M. Neale, Vamsi K. Mootha, Rahul Gupta

Transcript expression-aware annotation improves rare variant interpretation

Nature(2020)10.1038/s41586-020-2329-2

N/A

0.796DataRank · unranked

201 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +177 more

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

Nature(2023)10.1038/s41586-023-06426-5

N/A

0.785DataRank · unranked

187 citations

Masahiro Kanai, Timothy Durham, Kristin Tsuo, Jason G. McCoy, Anna V. Kotrys +7 more

Evaluating drug targets through human loss-of-function genetic variation

Nature(2020)10.1038/s41586-020-2267-z

N/A

0.779DataRank · unranked

179 citations

Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel R. Rhodes +150 more

Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects

medRxiv(2024)10.1101/2024.03.13.24303864

N/A

0.774DataRank · unranked

173 citations

Rahul Gupta, Masahiro Kanai, Wenhan Lu, Kristin Tsuo, Ying Wang +24 more

SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

Nature Genetics(2022)10.1038/s41588-022-01178-w

N/A

0.749DataRank · unranked

146 citations

Wenjian Bi, Zhangchen Zhao, Kushal K. Dey, Karthik A. Jagadeesh, Konrad J. Karczewski +4 more

Transcript expression-aware annotation improves rare variant discovery and interpretation

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/554444

N/A

0.746DataRank · unranked

20 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +14 more

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

Nature Genetics(2023)10.1038/s41588-023-01449-0

N/A

0.722DataRank · unranked

122 citations

Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker +10 more

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

The American Journal of Human Genetics(2018)10.1016/j.ajhg.2018.05.002

N/A

0.713DataRank · unranked

115 citations

F. Kyle Satterstrom, Seyedeh M. Zekavat, Indraniel Das, Mitja I Kurki, Claire Churchhouse +45 more

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

PLoS Genetics(2022)10.1371/journal.pgen.1010367

N/A

0.635DataRank · unranked

68 citations

Gundula Povysil, Jack A. Kosmicki, Elizabeth T. Cirulli, Theodore G. Drivas, Simone Furini +95 more

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation

Cell stem cell(2022)10.1016/j.stem.2022.01.011

N/A

0.619DataRank · unranked

61 citations

Sulagna Ghosh, Giulio Genovese, Robert E. Handsaker, Seva Kashin, Daniel Meyer +8 more

Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation

Nature Human Behaviour(2024)10.1038/s41562-024-01909-5

N/A

0.564DataRank · unranked

18 citations

Rebecca Shafee, Robbee Wedow, Amanda Elliott, Duncan S. Palmer, John Compitello +14 more

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.08.005

N/A

0.515DataRank · unranked

30 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more

Discordant calls across genotype discovery approaches elucidate variants with systematic errors

Genome Research(2023)10.1101/gr.277908.123

N/A

0.464DataRank · unranked

21 citations

Mykyta Artomov, Alexander A. Loboda, Heidi L. Rehm, Daniel G. MacArthur, Konrad J. Karczewski +3 more

Improved allele frequencies in gnomAD through local ancestry inference

Nature Communications(2025)10.1038/s41467-025-63340-2

Top 45%

0.414DataRank

Top 45%11 citations

Michael W. Wilson, Grace Tiao, Katherine R. Chao, Philip W. Darnowsky, Nicholas A. Watts +7 more

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.08.25.504851

N/A

0.396DataRank · unranked

13 citations

Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker +9 more

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes

BioData Mining(2023)10.1186/s13040-023-00321-5

N/A

0.379DataRank · unranked

10 citations

Konrad J. Karczewski, Brian Cole, Bao‐Li Loza, Jason H. Moore, Sander W. van der Laan +4 more

CHARR efficiently estimates contamination from DNA sequencing data

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.011

N/A

0.373DataRank · unranked

11 citations

Laura D. Gauthier, Timothy Poterba, Edoardo Giacopuzzi, Julia K. Goodrich, Christine Stevens +5 more

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

medRxiv(2022)10.1101/2022.03.28.22273040

N/A

0.312DataRank · unranked

7 citations

Gundula Povysil, Jack A. Kosmicki, Elizabeth T. Cirulli, Theodore G. Drivas, Simone Furini +95 more

Set-based rare variant association tests for biobank scale sequencing data sets

medRxiv(2021)10.1101/2021.07.12.21260400

N/A

0.312DataRank · unranked

7 citations

Wenjian Bi, Zhangchen Zhao, Kushal K. Dey, Karthik A. Jagadeesh, Konrad J. Karczewski +4 more

Principled distillation of multidimensional UK Biobank data reveals insights into the correlated human phenome

medRxiv(2022)10.1101/2022.09.02.22279546

N/A

0.294DataRank · unranked

4 citations

Rebecca Shafee, Amanda Elliott, Duncan S. Palmer, John Compitello, Masahiro Kanai +14 more

Biological insights from the whole genome analysis of human embryonic stem cells

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.26.337352

N/A

0.269DataRank · unranked

5 citations

Sulagna Ghosh, Giulio Genovese, Robert E. Handsaker, Seva Kashin, Konrad J. Karczewski +7 more

Analysis-ready VCF at Biobank scale using Zarr

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.11.598241

Top 59%

0.264DataRank

Top 59%2 citations

Timothy R. Millar, Will Tyler, Tom White, Benjamin Elsworth, Jérémy Guez +11 more

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

medRxiv(2023)10.1101/2023.03.08.23286955

N/A

0.241DataRank · unranked

4 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

medRxiv(2020)10.1101/2020.11.15.20227868

N/A

0.241DataRank · unranked

4 citations

Tuomo Kiiskinen, Juha Karjalainen, Kristi Krebs, Mitja Kurki, Aki S. Havulinna +17 more

CHARR efficiently estimates contamination from DNA sequencing data

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.28.545801

N/A

0.208DataRank · unranked

3 citations

Laura D. Gauthier, Timothy Poterba, Edoardo Giacopuzzi, Julia K. Goodrich, Christine Stevens +5 more

Widespread naturally variable human exons aid genetic interpretation

Nature Communications(2025)10.1038/s41467-025-65476-7

N/A

0DataRank · unranked

0 citations

Bram L. Gorissen, Jérémy Guez, Masahiro Kanai, Kavi Gupta, Hilary K. Finucane +3 more

Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration

UNC Libraries(2020)10.17615/wr3c-2b58

N/A

0DataRank · unranked

0 citations

Brendan J. Keating, Fotios Drenos, Vinicius Tragante, Folkert W. Asselbergs, Matthew B. Lanktree +12 more

Analytic and Translational Genetics

Annual Review of Biomedical Data Science(2020)10.1146/annurev-biodatasci-072018-021148

N/A

0DataRank · unranked

6 citations

Alicia R. Martin, Konrad J. Karczewski

Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes

Blood Advances(2020)10.1182/bloodadvances.2020002687

N/A

0DataRank · unranked

11 citations

Daria V. Babushok, Michele P. Lambert, Nicole Wolfset, M. Anna Kowalska, Mortimer Poncz +3 more

Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.22.427431

N/A

0DataRank · unranked

1 citations

Konrad J. Karczewski, Daniel Howrigan, Benjamin M. Neale, Vamsi K. Mootha, Rahul Gupta

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.08.09.455694

N/A

0DataRank · unranked

0 citations

Konrad J. Karczewski, Brian Cole, Bao‐Li Loza, Jason H. Moore, Sander W. van der Laan +4 more

Haematological setpoints are a stable and patient-specific deep phenotype

Nature(2024)10.1038/s41586-024-08264-5

N/A

0DataRank · unranked

66 citations

Rachel Petherbridge, Maxwell Roth, Cindy Zhang, Daniel C. De Souza, Christopher Mow +10 more

Cell Painting for cytotoxicity and mode-of-action analysis in primary human hepatocytes

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.22.634152

N/A

0DataRank · unranked

10 citations

Katherine Titterton, Alex Bäuerle, Alex Beatson, Daniil A. Boiko, Ángel Alexander Cabrera +12 more

Quantifying prion disease penetrance using large population control cohorts

UNC Libraries(2020)10.17615/m8r0-g416

N/A

0DataRank · unranked

1 citations

Hidehiro Mizusawa, Pamela Sklar, Nobuo Sanjo, Miguel Calero, Theo F. J. Kraus +58 more

Konrad J. Karczewski

Indexed papers

Top data-sharing exemplar

Papers