Anthony Philippakis

Also affiliated with Google (United States)

Biochemistry, Genetics and Molecular BiologyMedicine

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

125Author DataRank

Indexed papers

24in 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 24 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 diploid genome sequence of an Asian individual

Nature(2008)10.1038/nature07484

Top 1%

14.7DataRank

Top 1%964 citations

Wei Wang, Alexandra P. Lewis, Alan Hodgkinson, Geng Tian, Laurie Goodman +75 more

Papers

Driven by 107 papers — median percentile 94. Top paper: “The diploid genome sequence of an Asian individual”.

The diploid genome sequence of an Asian individual

Nature(2008)10.1038/nature07484

Top 1%

14.7DataRank

Top 1%964 citations

Wei Wang, Alexandra P. Lewis, Alan Hodgkinson, Geng Tian, Laurie Goodman +75 more

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

Comprehensive genomic characterization of squamous cell lung cancers

Nature(2012)10.1038/nature11404

Top 1%

11.0DataRank

Top 1%4036 citations

Gad Getz, Stephen E. Schumacher, Petar Stojanov, Chang‐Jiun Wu, Hailei Zhang +326 more

A global reference for human genetic variation

Nature(2015)10.1038/nature15393

Top 1%

10.6DataRank

Top 1%20166 citations

Gonçalo R. Abecasis, Richard M. Durbin, Panagiotis Deloukas, Aravinda Chakravarti, Peter Donnelly +516 more

A map of human genome variation from population-scale sequencing

Nature(2010)10.1038/nature09534

Top 2%

9.1DataRank

Top 2%8109 citations

Min Hu, Yuan Chen, Matthew N. Bainbridge, Richard M. Durbin, Si Quang Le +319 more

Genomic data in the All of Us Research Program

Nature(2024)10.1038/s41586-023-06957-x

Top 2%

8.6DataRank

Top 2%772 citations

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo, Lee Lichtenstein, Shimon Rura +91 more

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Nature Communications(2014)10.1038/ncomms4934

Top 2%

8.3DataRank

Top 2%460 citations

Jonathan Marchini, Peter Donnelly, Gerton Lunter, Jonathan L. Marchini, Simon Myers +364 more

An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics

Cell(2018)10.1016/j.cell.2018.02.052

Top 2%

8.1DataRank

Top 2%3980 citations

Katherine A. Hoadley, Laila M. Poisson, Alexander J. Lazar, Andrew D. Cherniack, Albert J. Kovatich +866 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

Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics

Cell(2018)10.1016/j.cell.2018.03.033

Top 3%

6.4DataRank

Top 3%447 citations

Matthew H. Bailey, Hoifung Poon, Vesteinn Thorsson, Antonio Colaprico, Andreas Bender +883 more

Pan-cancer analysis of whole genomes

Nature(2020)10.1038/s41586-020-1969-6

Top 3%

5.9DataRank

Top 3%3307 citations

Lauri A. Aaltonen, Federico Abascal, Adam Abeshouse, Hiroyuki Aburatani, David J. Adams +1244 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

Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas

Cell Reports(2018)10.1016/j.celrep.2018.03.046

N/A

5.5DataRank · unranked

186 citations

Francisco Sanchez-Vega, Konnor C. La, Joshua Armenia, Walid K. Chatila, Augustin Luna +869 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

Transcriptomic signatures across human tissues identify functional rare genetic variation

Science(2020)10.1126/science.aaz5900

N/A

5.0DataRank · unranked

166 citations

Benjamin J. Strober, Jonah Einson, Nathan S. Abell, François Aguet, Alvaro N. Barbeira +183 more

A framework for individualized splice-switching oligonucleotide therapy

Nature(2023)10.1038/s41586-023-06277-0

N/A

5.0DataRank · unranked

158 citations

Sijae Woo, Claudio M. de Gusmão, Boxun Zhao, Diana Chin, Renata L. DiDonato +24 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

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

Nature(2020)10.1038/s41586-020-1965-x

Top 5%

4.6DataRank

Top 5%668 citations

Federico Abascal, Jeremiah A. Wala, Ofer Shapira, Grace Tiao, Henrik Hornshøj +1240 more

High-throughput RNA isoform sequencing using programmed cDNA concatenation

Nature Biotechnology(2023)10.1038/s41587-023-01815-7

N/A

3.9DataRank · unranked

181 citations

Jonathan T. Smith, Kiran Garimella, Mehrtash Babadi, Victoria Popic, Moshe Sade-Feldman +14 more

Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space

Cell Genomics(2022)10.1016/j.xgen.2021.100085

N/A

3.9DataRank · unranked

132 citations

Anthony Philippakis, Enis Afgan, Eric Banks, Vincent J. Carey, Robert J. Carroll +95 more

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Nature Communications(2018)10.1038/s41467-018-04668-w

N/A

3.7DataRank · unranked

109 citations

Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan M. Bloom, Timothy Poterba +442 more

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Nature Communications(2018)10.1038/s41467-018-03911-8

N/A

3.1DataRank · unranked

104 citations

Amit V. Khera, Mark Chaffin, Derek Klarin, Pradeep Natarajan, Krishna Aragam +43 more

A vast resource of allelic expression data spanning human tissues

Genome Biology(2020)10.1186/s13059-020-02122-z

Top 8%

2.7DataRank

Top 8%147 citations

François Aguet, Pejman Mohammadi, Kristin G. Ardlie, Anthony Philippakis, Leanne Haggerty +159 more

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

Nucleic Acids Research(2022)10.1093/nar/gkac966

Top 8%

2.7DataRank

Top 8%143 citations

Theodore Arapoglou, Xihao Li, Zilin Li, Xiuwen Zheng, Jill E. Moore +20 more

Using viral load and epidemic dynamics to optimize pooled testing in resource-constrained settings

Science Translational Medicine(2021)10.1126/scitranslmed.abf1568

N/A

2.7DataRank · unranked

59 citations

James A. Hay, Brendan Blumenstiel, Maegan Harden, Michelle Cipicchio, Jon Bezney +8 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

Genetic analysis of right heart structure and function in 40,000 people

Nature Genetics(2022)10.1038/s41588-022-01090-3

N/A

2.2DataRank · unranked

99 citations

Paolo Di Achille, Victor Nauffal, Mahan Nekoui, Sam Friedman, Marcus D. R. Klarqvist +46 more

The Human Cell Atlas White Paper

arXiv (Cornell University)(2018)10.17863/cam.40032

Top 10%

2.2DataRank

Top 10%41 citations

Sarah A. Teichmann, Orit Rozenblatt‐Rosen, Michael J. T. Stubbington, Kristin G. Ardlie, Ido Amit +76 more

Cohort design and natural language processing to reduce bias in electronic health records research

npj Digital Medicine(2022)10.1038/s41746-022-00590-0

Top 10%

2.2DataRank

Top 10%84 citations

Christopher Reeder, Lia X. Harrington, Pulkit Singh, Gopal Sarma, Sam Friedman +24 more

Selection of 51 predictors from 13,782 candidate multimodal features using machine learning improves coronary artery disease prediction

Patterns(2021)10.1016/j.patter.2021.100364

N/A

2.1DataRank · unranked

43 citations

Marcus D. R. Klarqvist, Connor A. Emdin, Aniruddh P. Patel, Manish Paranjpe, Patrick T. Ellinor +5 more

The Data Use Ontology to streamline responsible access to human biomedical datasets

Cell Genomics(2021)10.1016/j.xgen.2021.100028

Top 12%

1.8DataRank

Top 12%64 citations

Moran N. Cabili, Giselle Kerry, Tiffany Boughtwood, Adrian Thorogood, Pinar Alper +52 more

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Communications Biology(2024)10.1038/s42003-023-05708-y

Top 12%

1.7DataRank

Top 12%52 citations

Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi–Ju Chen, Sara E. Kalla +95 more

Titin Truncating Variants in Adults Without Known Congestive Heart Failure

Journal of the American College of Cardiology(2020)10.1016/j.jacc.2020.01.013

N/A

1.6DataRank · unranked

28 citations

Alexander G. Bick, Mark Chaffin, Krishna G. Aragam, Seung Hoan Choi, Steven A. Lubitz +7 more

Artificial intelligence–enabled classification of hypertrophic heart diseases using electrocardiograms

Cardiovascular Digital Health Journal(2023)10.1016/j.cvdhj.2023.03.001

N/A

1.6DataRank · unranked

51 citations

Nate Diamant, Shaan Khurshid, Paolo Di Achille, Christopher Reeder, Sam Friedman +8 more

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Genome Research(2010)10.1101/gr.107524.110

N/A

1.5DataRank · unranked

29661 citations

Matthew Hanna, Iain Mathieson, Sachet A. Shukla, Kristian Cibulskis, Andrew Kernytsky +8 more

The All of Us Data and Research Center: Creating a Secure, Scalable, and Sustainable Ecosystem for Biomedical Research

Annual Review of Biomedical Data Science(2023)10.1146/annurev-biodatasci-122120-104825

Top 14%

1.5DataRank

Top 14%60 citations

Melissa Basford, Robert J. Carroll, Moira Rose Dillon, Heather Fullen, Jesse Leung +30 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

EGFR Mutations in Lung Cancer: Correlation with Clinical Response to Gefitinib Therapy

Science(2004)10.1126/science.1099314

N/A

1.4DataRank · unranked

9384 citations

Pasi A. Jänne, Jeffrey C. Lee, Sean Tracy, Heidi Greulich, Anthony Philippakis +13 more

Integrated genomic analyses of ovarian carcinoma

Nature(2011)10.1038/nature10166

N/A

1.3DataRank · unranked

8094 citations

Debra Bell, Andrew Berchuck, Michael J. Birrer, Jeremy Chien, D. W. Cramer +268 more

Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA, IDH1, EGFR, and NF1

Cancer Cell(2010)10.1016/j.ccr.2009.12.020

N/A

1.3DataRank · unranked

7682 citations

Katherine A. Hoadley, Elizabeth Purdom, Victoria Wang, Yuan Qi, Matthew D. Wilkerson +31 more

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Current Protocols in Bioinformatics(2013)10.1002/0471250953.bi1110s43

N/A

1.3DataRank · unranked

7169 citations

Mauricio O. Carneiro, Christopher Hartl, Ryan Poplin, Guillermo del Angel, Ami Levy‐Moonshine +11 more

The landscape of somatic copy-number alteration across human cancers

Nature(2010)10.1038/nature08822

N/A

1.2DataRank · unranked

4101 citations

Craig H. Mermel, Dale A. Porter, Guo Wei, Soumya Raychaudhuri, Jerry Donovan +61 more

Oncogenic Signaling Pathways in The Cancer Genome Atlas

Cell(2018)10.1016/j.cell.2018.03.035

N/A

1.2DataRank · unranked

3322 citations

Marco Mina, Joshua Armenia, Walid K. Chatila, Augustin Luna, Konnor C. La +891 more

The Mutational Landscape of Head and Neck Squamous Cell Carcinoma

Science(2011)10.1126/science.1208130

N/A

1.2DataRank · unranked

2533 citations

Ann Marie Egloff, Aaron D. Tward, Aleksandar D. Kostic, Kristian Cibulskis, Sachet A. Shukla +38 more

Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping

Nature Medicine(2024)10.1038/s41591-024-03010-w

N/A

1.2DataRank · unranked

36 citations

Marcus D. R. Klarqvist, Matthew C. Hill, Danielle F. Pace, Paolo Di Achille, Seung Hoan Choi +11 more

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

Proceedings of the National Academy of Sciences(2017)10.1073/pnas.1705859115

N/A

1.2DataRank · unranked

36 citations

Alisa Manning, Marcio Almeida, Matthew Zawistowski, Katharina Domschke, Tanya M. Teslovich +82 more

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Nature(2012)10.1038/nature11011

N/A

1.1DataRank · unranked

1794 citations

Yan Kou, Li Liu, Avi Ma’ayan, Kaitlin E. Samocha, Aniko Sabo +60 more

Rare chromosomal deletions and duplications increase risk of schizophrenia

Nature(2008)10.1038/nature07239

N/A

1.1DataRank · unranked

1503 citations

Michael C O'Donovan, Catherine H. Wilson, Manfred Kayser, Pentti J. Tienari, Aiden Corvin +72 more

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Nature Biotechnology(2009)10.1038/nbt.1523

N/A

1.1DataRank · unranked

1502 citations

Alexandre Melnikov, Jared Maguire, Peter Rogov, Emily M LeProust, William Brockman +11 more

Initial genome sequencing and analysis of multiple myeloma

Nature(2011)10.1038/nature09837

N/A

1.1DataRank · unranked

1438 citations

Michael S. Lawrence, Jonathan J. Keats, Kristian Cibulskis, Carrie Sougnez, Anna C. Schinzel +51 more

Neoantigen vaccine generates intratumoral T cell responses in phase Ib glioblastoma trial

Nature(2018)10.1038/s41586-018-0792-9

N/A

1.1DataRank · unranked

1412 citations

Jing Sun, Itay Tirosh, Nathan D. Mathewson, Shuqiang Li, Giacomo Oliveira +51 more

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Science(2012)10.1126/science.1215040

N/A

1.1DataRank · unranked

1321 citations

Suganthi Balasubramanian, Michael G. FitzGerald, Ni Huang, James Morris, Fred R. Hirsch +54 more

The genomic complexity of primary human prostate cancer

Nature(2011)10.1038/nature09744

N/A

1.1DataRank · unranked

1250 citations

Michael S. Lawrence, Francesca Demichelis, Timothy R. Dreszer, Kristian Cibulskis, Sachet A. Shukla +36 more

A framework for the interpretation of de novo mutation in human disease

Nature Genetics(2014)10.1038/ng.3050

N/A

1.1DataRank · unranked

1119 citations

Elise B Robinson, Stephan J. Sanders, Christine Stevens, Aniko Sabo, Lauren M. McGrath +25 more

The genetic architecture of type 2 diabetes

Nature(2016)10.1038/nature18642

N/A

1.1DataRank · unranked

1106 citations

Menachem Fromer, Tanya M. Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J. Gaulton +334 more

Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci

Nature Neuroscience(2014)10.1038/nn.3786

N/A

1.0DataRank · unranked

999 citations

Gyan Srivastava, Katie Lunnon, Jeremy Burgess, Leonard C. Schalkwyk, Lei Yu +27 more

Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis

Nature Communications(2023)10.1038/s41467-023-41185-x

N/A

1.0DataRank · unranked

22 citations

Margaret Sunitha Selvaraj, Henry Robert Condon, Kelsey Mayo, Sara Haidermota, Melissa Basford +12 more

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

Nature Genetics(2008)10.1038/ng.237

N/A

1.0DataRank · unranked

809 citations

Finny G. Kuruvilla, Steven A. McCarroll, Alec Wysoker, Taras K. Oleksyk, Simon Cawley +12 more

Deep learning of left atrial structure and function provides link to atrial fibrillation risk

Nature Communications(2024)10.1038/s41467-024-48229-w

N/A

0.931DataRank · unranked

38 citations

Paolo Di Achille, Seung Hoan Choi, Joel Rämö, Shaan Khurshid, Mahan Nekoui +14 more

The All of Us Research Program: Data quality, utility, and diversity

Patterns(2022)10.1016/j.patter.2022.100570

N/A

0.874DataRank · unranked

339 citations

Lina Sulieman, David J. Schlueter, Alese E. Halvorson, Jun Qian, Francis Ratsimbazafy +81 more

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Nature Genetics(2013)10.1038/ng.2543

N/A

0.862DataRank · unranked

313 citations

Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel +43 more

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

Nature Communications(2020)10.1038/s41467-020-15823-7

N/A

0.843DataRank · unranked

275 citations

Alexander G. Bick, Minxian Wang, Mark Chaffin, Sam Friedman, Jie Yao +14 more

Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion

Nature Genetics(2011)10.1038/ng.936

N/A

0.838DataRank · unranked

266 citations

Michael S. Lawrence, Lear E. Brace, Alex H. Ramos, Timothy R. Dreszer, Kristian Cibulskis +37 more

Machine learning enables new insights into clinical significance of and genetic contributions to liver fat accumulation

medRxiv(2020)10.1101/2020.09.03.20187195

N/A

0.821DataRank · unranked

15 citations

James P. Pirruccello, Sam Friedman, Connor A. Emdin, Veeral Ajmera, Tracey G. Simon +11 more

Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease

Cell(2021)10.1016/j.cell.2021.03.050

N/A

0.804DataRank · unranked

212 citations

Daniel C. Nachun, Nicole M. Ferraro, Michael J. Gloudemans, Abhiram S. Rao, Craig Smail +168 more

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

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

Prediction performance and fairness heterogeneity in cardiovascular risk models

Scientific Reports(2022)10.1038/s41598-022-16615-3

N/A

0.764DataRank · unranked

23 citations

Shaan Khurshid, Bum Chul Kwon, Aniruddh P. Patel, Puneet Batra, Anthony Philippakis +5 more

Association of machine learning-derived measures of body fat distribution with cardiometabolic diseases in >40,000 individuals

medRxiv(2021)10.1101/2021.05.07.21256854

Top 28%

0.704DataRank

Top 28%17 citations

Marcus D. R. Klarqvist, Nathaniel Diamant, Takara L. Stanley, Patrick T. Ellinor, Nehal N. Mehta +7 more

Machine learning enables new insights into genetic contributions to liver fat accumulation

Cell Genomics(2021)10.1016/j.xgen.2021.100066

N/A

0.700DataRank · unranked

105 citations

James P. Pirruccello, Sam Friedman, Minxian Wang, Connor A. Emdin, Veeral Ajmera +12 more

Genetics of myocardial interstitial fibrosis in the human heart and association with disease

Nature Genetics(2023)10.1038/s41588-023-01371-5

N/A

0.670DataRank · unranked

86 citations

Paolo Di Achille, Marcus D. R. Klarqvist, Jonathan W. Cunningham, Matthew C. Hill, James P. Pirruccello +13 more

Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass

Nature Communications(2023)10.1038/s41467-023-37173-w

N/A

0.568DataRank · unranked

43 citations

Julieta Lazarte, James P. Pirruccello, Lu‐Chen Weng, Seung Hoan Choi, Amelia Weber Hall +11 more

Association between plausible genetic factors and weight loss from GLP1-RA and bariatric surgery

Nature Medicine(2025)10.1038/s41591-025-03645-3

N/A

0.542DataRank · unranked

36 citations

Mattia Cordioli, Veronica Tozzo, Sarah Urbut, Kadri Arumäe, Roelof A. J. Smit +27 more

The Genetic Determinants of Aortic Distention

Journal of the American College of Cardiology(2023)10.1016/j.jacc.2023.01.044

N/A

0.538DataRank · unranked

35 citations

Joel Rämö, Seung Hoan Choi, Mark Chaffin, Shinwan Kany, Mahan Nekoui +11 more

Deep learning enables genetic analysis of the human thoracic aorta

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.12.091934

N/A

0.533DataRank · unranked

34 citations

Mark Chaffin, Stephen J. Fleming, Alessandro Arduini, Honghuang Lin, Shaan Khurshid +21 more

Unsupervised deep learning of electrocardiograms enables scalable human disease profiling

npj Digital Medicine(2025)10.1038/s41746-024-01418-9

N/A

0.464DataRank · unranked

21 citations

Shaan Khurshid, Rachael A. Venn, Xin Wang, Nate Diamant, Paolo Di Achille +14 more

The All of Us Research Program: data quality, utility, and diversity

medRxiv(2020)10.1101/2020.05.29.20116905

N/A

0.416DataRank · unranked

15 citations

Lina Sulieman, David J. Schlueter, Alese E. Halvorson, Jun Qian, Francis Ratsimbazafy +42 more

Genetics of Myocardial Interstitial Fibrosis in the Human Heart and Association with Disease

medRxiv(2021)10.1101/2021.11.05.21265953

N/A

0.385DataRank · unranked

12 citations

Paolo Di Achille, Marcus D. R. Klarqvist, Jonathan W. Cunningham, James P. Pirruccello, Lu‐Chen Weng +12 more

Genetic Analysis of Right Heart Structure and Function in 40,000 People

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.02.05.429046

N/A

0.373DataRank · unranked

11 citations

Paolo Di Achille, Victor Nauffal, Mahan Nekoui, Sam Friedman, Marcus D. R. Klarqvist +11 more

Deep Learning of Left Atrial Structure and Function Provides Link to Atrial Fibrillation Risk

medRxiv(2021)10.1101/2021.08.02.21261481

N/A

0.360DataRank · unranked

10 citations

Paolo Di Achille, Seung Hoan Choi, Shaan Khurshid, Mahan Nekoui, Sean J. Jurgens +9 more

Deep learning to estimate cardiac magnetic resonance–derived left ventricular mass

Cardiovascular Digital Health Journal(2021)10.1016/j.cvdhj.2021.03.001

N/A

0.330DataRank · unranked

8 citations

Sam Friedman, James P. Pirruccello, Paolo Di Achille, Nathaniel Diamant, Christopher D. Anderson +6 more

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Nature Communications(2020)10.1038/s41467-020-15236-6

Top 57%

0.275DataRank

Top 57%2 citations

Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan M. Bloom, Timothy Poterba +442 more

Machine Learning to Understand Genetic and Clinical Factors Associated with the Pulse Waveform Dicrotic Notch

medRxiv(2021)10.1101/2021.12.09.21267484

N/A

0.241DataRank · unranked

4 citations

Paolo Di Achille, Valerie N. Morrill, Lu‐Chen Weng, Seung Hoan Choi, Shaan Khurshid +9 more

Empowering the biomedical research community: Innovative SAS deployment on the All of Us Researcher Workbench

Journal of the American Medical Informatics Association(2024)10.1093/jamia/ocae216

Top 63%

0.217DataRank

Top 63%2 citations

Cathy Shyr, Moira Rose Dillon, Zhongjie Liu, Jennifer Peterson, Chris St Jeor +24 more

Deep Learning of Electrocardiograms Enables Scalable Human Disease Profiling

medRxiv(2022)10.1101/2022.12.21.22283757

N/A

0.165DataRank · unranked

2 citations

Xin Wang, Sam Friedman, Nate Diamant, Shaan Khurshid, Paolo Di Achille +13 more

Deep Learning to Estimate Cardiac Magnetic Resonance-Derived Left Ventricular Mass

medRxiv(2020)10.1101/2020.12.18.20248364

N/A

0.165DataRank · unranked

2 citations

Sam Friedman, James P. Pirruccello, Paolo Di Achille, Nathaniel Diamant, Christopher D. Anderson +6 more

Author Correction: Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis

Communications Biology(2022)10.1038/s42003-022-03769-z

N/A

0.165DataRank · unranked

2 citations

Lars Feuerbach, Chen Hong, David Mas-Ponte, Randi Istrup Pedersen, PCAWG Drivers and Functional Interpretation Group +1255 more

Whole Genome Sequencing Identifies Functional Mutations In the Wnt Pathway In CLL

Blood(2010)10.1182/blood.v116.21.693.693

N/A

0.153DataRank · unranked

1 citations

Nathalie Pochet, Kristian Cibulskis, Wandi Zhang, Mike Lawrence, Quinlan L. Sievers +12 more

Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-lead Electrocardiograms

medRxiv(2022)10.1101/2022.01.17.22269357

N/A

0.149DataRank · unranked

1 citations

Shaan Khurshid, Seung Hoan Choi, Sam Friedman, Lu‐Chen Weng, Christopher Reeder +13 more

Association between plausible genetic factors and weight loss from GLP1-RA and bariatric surgery: a multi-ancestry study in 10 960 individuals from 9 biobanks

medRxiv(2024)10.1101/2024.09.11.24313458

N/A

0.104DataRank · unranked

1 citations

Mattia Cordioli, Veronica Tozzo, Sarah Urbut, Kadri Arumäe, Roelof A. J. Smit +27 more

Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants

Genome Biology(2026)10.1186/s13059-025-03921-y

Top 78%

0.104DataRank

Top 78%1 citations

Xiaowei Hu, Kangjin Kim, Sung Chun, Peter Orchard, Dandi Qiao +65 more

Empirical validation of an automated approach to data use oversight

Cell Genomics(2021)10.1016/j.xgen.2021.100031

N/A

0DataRank · unranked

35 citations

Jonathan Lawson, Andrea Saltzman, Gregory T. Rushton, Pearl O’Rourke, John Wilbanks +6 more

Cohort Design and Natural Language Processing to Reduce Bias in Electronic Health Records Research: The Community Care Cohort Project

medRxiv(2021)10.1101/2021.05.26.21257872

N/A

0DataRank · unranked

6 citations

Christopher Reeder, Lia X. Harrington, Pulkit Singh, Gopal Sarma, Sam Friedman +24 more

Evidence of transmission from fully vaccinated individuals in a large outbreak of the SARS-CoV-2 Delta variant in Provincetown, Massachusetts

medRxiv(2021)10.1101/2021.10.20.21265137

N/A

0DataRank · unranked

9 citations

Lydia A. Krasilnikova, Gage K. Moreno, S. F. Schaffner, Johanna Vostok, Nicholas FitzGerald +75 more

Deep learning on resting electrocardiogram to identify impaired heart rate recovery

Cardiovascular Digital Health Journal(2022)10.1016/j.cvdhj.2022.06.001

N/A

0DataRank · unranked

11 citations

Paolo Di Achille, Lu‐Chen Weng, Emily S. Lau, Shaan Khurshid, Sam Friedman +17 more

Clinical and Genetic Associations of Deep Learning-Derived Cardiac Magnetic Resonance-Based Left Ventricular Mass

medRxiv(2022)10.1101/2022.01.09.22268962

N/A

0DataRank · unranked

1 citations

Julieta Lazarte, James P. Pirruccello, Lu‐Chen Weng, Seung Hoan Choi, Amelia Weber Hall +11 more

High-throughput RNA isoform sequencing using programmable cDNA concatenation

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.01.462818

N/A

0DataRank · unranked

26 citations

Jonathan T. Smith, Kiran Garimella, Mehrtash Babadi, Moshe Sade-Feldman, Michael Gatzen +14 more

Cross-modal autoencoder framework learns holistic representations of cardiovascular state

Nature Communications(2023)10.1038/s41467-023-38125-0

N/A

0DataRank · unranked

85 citations

Sam Friedman, Shaan Khurshid, Kenney Ng, Puneet Batra, Steven A. Lubitz +3 more

Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower

Nature Communications(2022)10.1038/s41467-022-32343-8

N/A

0DataRank · unranked

0 citations

PCAWG Drivers and Functional Interpretation Working Group, Federico Abascal, Samirkumar B. Amin, Pratiti Bandopadhayay, Rameen Beroukhim +1242 more

Characterizing and Quantifying Performance Heterogeneity in Cardiovascular Risk Prediction Models — A Step Towards Improved Disease Risk Assessment

Research Square(2021)10.21203/rs.3.rs-936366/v1

N/A

0DataRank · unranked

1 citations

Shaan Khurshid, Bum Chul Kwon, Aniruddh P. Patel, Puneet Batra, Anthony Philippakis +5 more

Building a collaborative cloud platform to accelerate heart, lung, blood, and sleep research

Journal of the American Medical Informatics Association(2023)10.1093/jamia/ocad048

N/A

0DataRank · unranked

17 citations

Paul Avillach, Rebecca Boyles, Kira Bradford, Steven J. Cox, Brandi N. Davis‐Dusenbery +53 more

First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100821

N/A

0DataRank · unranked

9 citations

Madelynn Campagna, Anthony Philippakis, Anne H. O’Donnell-Luria, Michael H. Gelb, Sarah L. Stenton

Natural Language Processing for Adjudication of Heart Failure Hospitalizations in a Multi-Center Clinical Trial

medRxiv(2023)10.1101/2023.08.17.23294234

N/A

0DataRank · unranked

5 citations

Pulkit Singh, Christopher Reeder, Brian Claggett, Pablo M. Marti-Castellote, Emily S. Lau +11 more

Contributors

Genomic and Personalized Medicine(2013)10.1016/b978-0-12-382227-7.00124-5

N/A

0DataRank · unranked

0 citations

Minhaz Uddin Ahmed, Sun Hee Ahn, R. Rand Allingham, Jude Alsarraj, Matthew L. Anderson +228 more

Benchmarking Observational Studies with Experimental Data under Right-Censoring

arXiv (Cornell University)(2024)10.48550/arxiv.2402.15137

N/A

0DataRank · unranked

0 citations

Edward De Brouwer, Zeshan Hussain, Michael Oberst, Anthony Philippakis, David Sontag +1 more

Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Communications Biology(2024)10.1038/s42003-024-06408-x

N/A

0DataRank · unranked

0 citations

Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi–Ju Chen, Sara E. Kalla +93 more

cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions

Nature Methods(2025)10.1038/s41592-025-02919-5

N/A

0DataRank · unranked

0 citations

Yi Zhang, Xihao Li, Margaret Sunitha Selvaraj, Zilin Li, Hufeng Zhou +544 more

Anthony Philippakis

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