🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Kaitlin E. Samocha

Broad Institute

ORCID: 0000-0002-1704-3352

Also affiliated with Massachusetts General Hospital

Biochemistry, Genetics and Molecular BiologyNeuroscience

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
24.4Author DataRank

Indexed papers

4in 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 4 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 →

Top data-sharing exemplar

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 16 papers — median percentile 97. 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

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

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

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

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

Examining the role of common variants in rare neurodevelopmental conditions

Nature(2024)10.1038/s41586-024-08217-y
N/A
1.1DataRank · unranked
59 citations

Emilie M. Wigdor, Daniel S. Malawsky, Patrick Campbell, Kaitlin E. Samocha, V. Kartik Chundru +16 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

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

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

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

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

UNC Libraries(2020)10.17615/tdb3-bx52
N/A
0DataRank · unranked
0 citations

Hemant Bengani, Joseph A. Marsh, Angela M. Kaindl, Koh-ichiro Yoshiura, Katharina Steindl +73 more