Julius O.B. Jacobsen

Also affiliated with William Harvey Research Institute

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

7.2Author DataRank

Indexed papers

6in 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 6 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 Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005

Top 6%

3.9DataRank

Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 more

Papers

Driven by 31 papers — median percentile 62. Top paper: “BioJava: an open-source framework for bioinformatics in 2012”.

BioJava: an open-source framework for bioinformatics in 2012

Bioinformatics(2012)10.1093/bioinformatics/bts494

N/A

10.4DataRank · unranked

183 citations

Andrew Yates, Spencer E. Bliven, Peter W. Rose, Julius Jacobsen, Peter V. Troshin +14 more

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Cell Genomics(2021)10.1016/j.xgen.2021.100029

N/A

6.0DataRank · unranked

306 citations

Angela Page, Lindsay Smith, Jeremy Adams, Gil Alterovitz, Lawrence Babb +95 more

The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005

Top 6%

3.9DataRank

Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 more

The GA4GH Phenopacket schema defines a computable representation of clinical data

Nature Biotechnology(2022)10.1038/s41587-022-01357-4

N/A

2.4DataRank · unranked

111 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske +62 more

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

Nucleic Acids Research(2023)10.1093/nar/gkad1082

Top 14%

1.5DataRank

Top 14%106 citations

Kevin Schaper, Nicolas A Matentzoglu, Vincent Rubinetti, Faisal Alquaddoomi, Corey Cox +39 more

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Human Mutation(2022)10.1002/humu.24353

N/A

1.3DataRank · unranked

63 citations

Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo +46 more

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

medRxiv(2021)10.1101/2021.11.27.21266944

N/A

0.631DataRank · unranked

14 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan +42 more

Phenopacket-tools: Building and validating GA4GH Phenopackets

PLoS ONE(2023)10.1371/journal.pone.0285433

Top 36%

0.534DataRank

Top 36%12 citations

Julius O.B. Jacobsen, Alex H. Wagner, Tudor Groza, Martha A. Beckwith, Lauren Rekerle +13 more

Rare disease gene association discovery in the 100,000 GenomesProject

Nature(2025)10.1038/s41586-025-08623-w

N/A

0.515DataRank · unranked

18 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100371

Top 39%

0.489DataRank

Top 39%12 citations

Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh C Carmody +30 more

The Unified Phenotype Ontology : a framework for cross-species integrative phenomics

Genetics(2025)10.1093/genetics/iyaf027

Top 45%

0.406DataRank

Top 45%10 citations

Susan M. Bello, Ray Stefancsik, Sarah M. Alghamdi, Anna V. Anagnostopoulos, James P. Balhoff +41 more

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

medRxiv(2024)10.1101/2024.05.29.24308104

Top 51%

0.345DataRank

Top 51%9 citations

Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica X. Chong +27 more

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.021

N/A

0DataRank · unranked

113 citations

Vida Ravanmehr, Julius O.B. Jacobsen, Daniel Daniš, Xingmin Aaron Zhang, Leigh C Carmody +10 more

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

medRxiv(2023)10.1101/2023.12.20.23300294

N/A

0DataRank · unranked

3 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

Efficient reinterpretation of rare disease cases using Exomiser

npj Genomic Medicine(2024)10.1038/s41525-024-00456-2

N/A

0DataRank · unranked

20 citations

Julius O.B. Jacobsen, Susan Walker, Valentina Cipriani, Nomi L. Harris, Melissa A Haendel +4 more

Improving prenatal diagnosis through standards and aggregation

Prenatal Diagnosis(2024)10.1002/pd.6522

N/A

0DataRank · unranked

10 citations

Pilar Cacheiro, Julius O.B. Jacobsen, Jessica L. Giordano, Harrison Brand, Ronald J. Wapner +4 more

Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization

Genetics in Medicine(2024)10.1016/j.gim.2024.101292

N/A

0DataRank · unranked

2 citations

Daniel Daniš, Yasemin Bridges, Julius O.B. Jacobsen, Damian Smedley, Peter N. Robinson +1 more

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

medRxiv(2024)10.1101/2024.07.22.24310816

N/A

0DataRank · unranked

9 citations

Leonardo Chimirri, Yasemin Bridges, Daniel Daniš, J. Harry Caufield, Michael Gargano +16 more

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.13.598672

N/A

0DataRank · unranked

5 citations

Vinícius de Souza, Katherina G Cortes, Melissa A Haendel, Nomi L. Harris, Daniel Korn +10 more

Mondo: integrating disease terminology across communities

Genetics(2025)10.1093/genetics/iyaf215

N/A

0DataRank · unranked

16 citations

Sabrina Toro, Nicolas A Matentzoglu, Joseph E Flack, Kathleen R. Mullen, Harshad Hegde +95 more

LinkML: an open data modeling framework

GigaScience(2025)10.1093/gigascience/giaf152

N/A

0DataRank · unranked

4 citations

Harold R. Solbrig, Nomi L. Harris, Patrick Kalita, Mark A. Miller, Sagar Patil +63 more

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.014

N/A

0DataRank · unranked

67 citations

Julius O.B. Jacobsen, Leigh C Carmody, Michael Gargano, Julie A. McMurry, Ayushi Hegde +5 more

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework

BMC Bioinformatics(2025)10.1186/s12859-025-06105-4

N/A

0DataRank · unranked

5 citations

Vinícius de Souza, Katherina G Cortes, Melissa A Haendel, Nomi L. Harris, Daniel Korn +10 more

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.09.014

N/A

0DataRank · unranked

15 citations

Julius O.B. Jacobsen, Leigh C Carmody, Michael Gargano, Julie A. McMurry, Ayushi Hegde +5 more

SvAnna: efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.14.452267

N/A

0DataRank · unranked

2 citations

Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin T Reese +9 more

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

Human Mutation(2022)10.1002/humu.24380

N/A

0DataRank · unranked

75 citations

Catherine Kelly, Valentina Cipriani, Christopher J. Mungall, Justin T Reese, Daniel Daniš +3 more

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Genome Medicine(2022)10.1186/s13073-022-01046-6

N/A

0DataRank · unranked

42 citations

Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin T Reese +9 more

Phenotype-aware prioritisation of rare Mendelian disease variants

Trends in Genetics(2022)10.1016/j.tig.2022.07.002

N/A

0DataRank · unranked

33 citations

Anita Szabó, Nikolas Pontikos, Gavin Arno, Peter N. Robinson, Julius O.B. Jacobsen +3 more

GA4GH Phenopackets: A Practical Introduction

Advanced Genetics(2022)10.1002/ggn2.202200016

N/A

0DataRank · unranked

20 citations

Julius O.B. Jacobsen, Alex H. Wagner, Daniel Daniš, Bahá El Kassaby, Michael Gargano +14 more

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

Briefings in Bioinformatics(2022)10.1093/bib/bbac188

N/A

0DataRank · unranked

15 citations

Catherine Kelly, Valentina Cipriani, Peter N. Robinson, Damian Smedley, Julius O.B. Jacobsen

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

Genetics in Medicine(2022)10.1016/j.gim.2022.03.013

N/A

0DataRank · unranked

7 citations

Nour Gazzaz, Stephanie Huynh, Julia Handra, Lynn Warnock, Ashley Moller‐Hansen +15 more

Julius O.B. Jacobsen

Indexed papers

Top data-sharing exemplar

Papers