Iain Mathieson

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

73.9Author 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 54 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 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

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Nature(2016)10.1038/nature18964

Top 2%

8.6DataRank

Top 2%1785 citations

Alexandra P. Lewis, Mark Lipson, Iain Mathieson, Madhusudan Gujral, Fernando Racimo +86 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

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

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Nature Communications(2018)10.1038/s41467-018-06159-4

Top 3%

6.6DataRank

Top 3%260 citations

Yossi Farjoun, Ilya Shlyakhter, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan +16 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

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

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 variant call format and VCFtools

Bioinformatics(2011)10.1093/bioinformatics/btr330

N/A

1.5DataRank · unranked

17436 citations

Joanna M. M. Howson, University of Michigan, Iain Mathieson, Mark A. DePristo, Robert E. Handsaker +8 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

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

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

bioRxiv (Cold Spring Harbor Laboratory)(2018)10.1101/269316

Top 16%

1.3DataRank

Top 16%34 citations

Yossi Farjoun, David Larson, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan +19 more

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus

Nature Human Behaviour(2023)10.1038/s41562-023-01528-6

N/A

1.3DataRank · unranked

59 citations

Felix R. Day, Nicola Barban, Felix C. Tropf, David M. Brazel, Diana van Heemst +92 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

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 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

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

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

An Ancient Baboon Genome Demonstrates Long-Term Population Continuity in Southern Africa

Genome Biology and Evolution(2020)10.1093/gbe/evaa019

Top 26%

0.766DataRank

Top 26%18 citations

Federico Abascal, Lasse Vinner, Pontus Skoglund, Cristina Pomilla, Peter Mitchell +6 more

Tracing the Evolution of Human Gene Regulation and Its Association with Shifts in Environment

Genome Biology and Evolution(2021)10.1093/gbe/evab237

N/A

0.396DataRank · unranked

13 citations

Maya R Johnson, Iain Mathieson, John A. Capra, Laura L. Colbran

Regularized sequence-context mutational trees capture variation in mutation rates across the human genome

PLoS Genetics(2023)10.1371/journal.pgen.1010807

N/A

0.385DataRank · unranked

12 citations

Mitchell Conery, Benjamin J. Auerbach, Shane T. Jensen, Iain Mathieson, Benjamin F. Voight +1 more

Insufficient evidence for natural selection associated with the Black Death

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.14.532615

N/A

0.385DataRank · unranked

12 citations

Cindy G. Santander, Pontus Skoglund, Ida Moltke, David Reich, Iain Mathieson +1 more

The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort

medRxiv(2022)10.1101/2022.10.21.22281387

N/A

0.181DataRank · unranked

2 citations

Anurag Verma, Colleen Morse, Penn Medicine BioBank, Marylyn D. Ritchie, Iain Mathieson +1 more

Hidden structure in polygenic scores and the challenge of disentangling ancestry interactions in admixed populations

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.06.30.662316

N/A

0DataRank · unranked

1 citations

Ravi Mandla, Zhuozheng Shi, Penn Medicine BioBank, Bogdan Paşaniuc, Iain Mathieson +1 more

What is ancestry?

PLoS Genetics(2020)10.1371/journal.pgen.1008624

N/A

0DataRank · unranked

178 citations

Aylwyn Scally, Iain Mathieson

Crossover Position Drives Chromosome Remodeling for Accurate Meiotic Chromosome Segregation

Current Biology(2020)10.1016/j.cub.2020.01.079

N/A

0DataRank · unranked

44 citations

Laura I. Láscarez‐Lagunas, Saravanapriah Nadarajan, Iain Mathieson, Mónica P. Colaiácovo, Elisabeth Altendorfer

A Selective Sweep Conceals a MicroRNA with Broad Metabolic Effects

Cell Metabolism(2020)10.1016/j.cmet.2020.10.014

N/A

0DataRank · unranked

1 citations

Struan F.A. Grant, Iain Mathieson

Estimating time-varying selection coefficients from time series data of allele frequencies

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.17.387761

N/A

0DataRank · unranked

20 citations

Iain Mathieson

Automatic inference of demographic parameters using Generative Adversarial Networks

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.05.237834

N/A

0DataRank · unranked

14 citations

Jiaping Wang, Michael Κourakos, Nhung Hoang, Hyong Hark Lee, Iain Mathieson +2 more

Demographic history impacts stratification in polygenic scores

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.20.212530

N/A

0DataRank · unranked

10 citations

Iain Mathieson, Arslan A. Zaidi

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.19.104455

N/A

0DataRank · unranked

8 citations

Felix R. Day, Nicola Barban, Felix C. Tropf, David M. Brazel, Ahmad Vaez +8 more

The omnigenic model and polygenic prediction of complex traits

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.07.003

N/A

0DataRank · unranked

127 citations

Iain Mathieson

Automatic inference of demographic parameters using generative adversarial networks

Molecular Ecology Resources(2021)10.1111/1755-0998.13386

N/A

0DataRank · unranked

69 citations

Jiaping Wang, Michael Κourakos, Nhung Hoang, Hyong Hark Lee, Iain Mathieson +2 more

Long Runs of Homozygosity Are Correlated with Marriage Preferences across Global Population Samples

Human Biology(2021)10.1353/hub.2021.0011

N/A

0DataRank · unranked

19 citations

Rslan A Zaidi, Santosh Anagol, Iain Mathieson, Samali Anova Sahoo

Predicting skeletal stature using ancient DNA

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.31.437877

N/A

0DataRank · unranked

10 citations

Hannah M. Moots, Jay T. Stock, Andrej Shbat, Bárbara Domingues Bitarello, Wolfgang Haak +4 more

Long runs of homozygosity are correlated with marriage preferences across global population samples

Human Biology(2021)10.1101/2021.03.04.433907

N/A

0DataRank · unranked

2 citations

Arslan A. Zaidi, Santosh Anagol, Iain Mathieson, Samali Anova Sahoo

Regularized sequence-context mutational trees capture variation in mutation rates across the human genome

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.10.14.512160

N/A

0DataRank · unranked

1 citations

Mitchell Conery, Benjamin J. Auerbach, Shane T. Jensen, Iain Mathieson, Benjamin F. Voight +1 more

A gene-level test for directional selection on gene expression

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.11.03.515083

N/A

0DataRank · unranked

1 citations

Fabián Ramos-Almodóvar, Iain Mathieson, Laura L. Colbran

The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100202

N/A

0DataRank · unranked

10 citations

Anurag Verma, Colleen Morse, Marylyn D. Ritchie, Iain Mathieson, Arslan A. Zaidi

Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort

PLoS Genetics(2023)10.1371/journal.pgen.1010584

N/A

0DataRank · unranked

10 citations

Shadi Mehrabi, Alexandra E. Quimby, Tingfang Chen, Sixing Chen, Joseph Park +9 more

A gene-level test for directional selection on gene expression

Genetics(2023)10.1093/genetics/iyad060

N/A

0DataRank · unranked

6 citations

Fabián Ramos-Almodóvar, Iain Mathieson, Laura L. Colbran

Interpreting Generative Adversarial Networks to Infer Natural Selection from Genetic Data

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.07.531546

N/A

0DataRank · unranked

5 citations

Iain Mathieson, Sara Mathieson, Rebecca Riley

Predicting functional consequences of recent natural selection in Britain

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.10.16.562549

N/A

0DataRank · unranked

1 citations

Laura L. Colbran, Iain Mathieson, Lin Poyraz

Predicting Functional Consequences of Recent Natural Selection in Britain

Molecular Biology and Evolution(2024)10.1093/molbev/msae053

N/A

0DataRank · unranked

8 citations

Laura L. Colbran, Iain Mathieson, Lin Poyraz

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

UNC Libraries(2024)10.17615/k3wp-sy78

N/A

0DataRank · unranked

0 citations

D.N. Cooper, A.P. Reiner, A.P. Morris, Eric Young, Cristina Pomilla +52 more

Insufficient evidence for natural selection associated with the Black Death

Nature(2025)10.1038/s41586-024-08496-5

N/A

0DataRank · unranked

12 citations

Cindy G. Santander, Pontus Skoglund, Ida Moltke, David Reich, Iain Mathieson +1 more

Polygenic prediction of human complex traits using ancient DNA

Current Opinion in Genetics & Development(2025)10.1016/j.gde.2025.102396

N/A

0DataRank · unranked

1 citations

Iain Mathieson

Methylation-associated mutagenesis underlies variation in the mutation spectrum across eukaryotes

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.28.656604

N/A

0DataRank · unranked

2 citations

Ziyue Gao, Benjamin F. Voight, Iain Mathieson, Fabián Ramos-Almodóvar

Iain Mathieson

Indexed papers

Top data-sharing exemplar

Papers