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Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

eLife, 2019-03, Vol.8

2019

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Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

American journal of human genetics, 2012-12, Vol.91 (6), p.1033-1040

2012

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Identification of cancer driver genes based on nucleotide context

Nature genetics, 2020-02, Vol.52 (2), p.208-218

2020

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Revisiting mutagenesis at non-B DNA motifs in the human genome

Nature structural & molecular biology, 2023-04, Vol.30 (4), p.417-424

2023

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Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types

Nature genetics, 2017-04, Vol.49 (4), p.600-605

2017

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Inferring causality and functional significance of human coding DNA variants

Human molecular genetics, 2012-10, Vol.21 (1), p.R10-R17

SUNYAEV, Shamil R

2012

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The missing link between genetic association and regulatory function

eLife, 2022-12, Vol.11

2022

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Assessing the evolutionary impact of amino acid mutations in the human genome

PLoS genetics, 2008-05, Vol.4 (5), p.e1000083-e1000083

2008

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Exome sequencing and the genetic basis of complex traits

Nature genetics, 2012-06, Vol.44 (6), p.623-630

2012

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Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

American journal of human genetics, 2010-06, Vol.86 (6), p.832-838

2010

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Estimating the selective effects of heterozygous protein-truncating variants from human exome data

Nature genetics, 2017-05, Vol.49 (5), p.806-810

2017

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Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

American journal of human genetics, 2008-01, Vol.82 (1), p.100-112

2008

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Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

PLoS genetics, 2015-08, Vol.11 (8), p.e1005436-e1005436

2015

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

Nucleic acids research, 2023-01, Vol.51 (D1), p.D1300-D1311

2023

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Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics

American journal of human genetics, 2020-07, Vol.107 (1), p.46-59

2020

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Maintenance of Complex Trait Variation: Classic Theory and Modern Data

Frontiers in genetics, 2021-11, Vol.12, p.763363-763363

2021

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Excess of Deleterious Mutations around HLA Genes Reveals Evolutionary Cost of Balancing Selection

Molecular biology and evolution, 2016-10, Vol.33 (10), p.2555-2564

2016

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Adaptive mutations in the JC virus protein capsid are associated with progressive multifocal leukoencephalopathy (PML)

PLoS genetics, 2009-02, Vol.5 (2), p.e1000368-e1000368

2009

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Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair

Nature biotechnology, 2014-01, Vol.32 (1), p.71-75

2014

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APOBEC-Induced Cancer Mutations Are Uniquely Enriched in Early-Replicating, Gene-Dense, and Active Chromatin Regions

Cell reports (Cambridge), 2015-11, Vol.13 (6), p.1103-1109

2015

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Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits

PLoS genetics, 2022-12, Vol.18 (12), p.e1010557

2022

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PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

Genome Biology, 2018-10, Vol.19 (1), p.173-173, Article 173

2018

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Mutation mapping and identification by whole-genome sequencing

Genome research, 2012-08, Vol.22 (8), p.1541-1548

2012

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Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates

American journal of human genetics, 2015-12, Vol.97 (6), p.775-789

2015

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Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

Identification of cancer driver genes based on nucleotide context

Revisiting mutagenesis at non-B DNA motifs in the human genome

Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types

Inferring causality and functional significance of human coding DNA variants

The missing link between genetic association and regulatory function

Assessing the evolutionary impact of amino acid mutations in the human genome

Exome sequencing and the genetic basis of complex traits

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

The Parkinson’s disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

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

Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics

Maintenance of Complex Trait Variation: Classic Theory and Modern Data

Excess of Deleterious Mutations around HLA Genes Reveals Evolutionary Cost of Balancing Selection

Adaptive mutations in the JC virus protein capsid are associated with progressive multifocal leukoencephalopathy (PML)

Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair

APOBEC-Induced Cancer Mutations Are Uniquely Enriched in Early-Replicating, Gene-Dense, and Active Chromatin Regions

Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

Mutation mapping and identification by whole-genome sequencing

Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates

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