Nature Search

Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths

Repetitive DNA sequences shape genome evolution and instability. Here, the authors analyze repeat length distributions across over 300 mammals and show that long repeats arise and persist through a dynamic balance of mutation processes, without requiring natural selection.

Ryan J. McGinty
Daniel J. Balick
Shamil R. Sunyaev
ResearchOpen Access09 Dec 2025
Nature Communications

Volume: 17, P: 1-22
Microsecond-resolved XAFS of the triplet excited state of Pt₂(P₂O₅H₂)^4–₄

Daniel J. Thiel
Pēteris Līviņš
Aaron Lewis
Research01 Mar 1993
Nature

Volume: 362, P: 40-43
Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

Negative selection removes deleterious genetic variation, and can influence genetic architectures and evolution of complex traits. Here, the authors analyze data from 25 UK Biobank diseases and complex traits, and quantify frequency-dependent genetic architectures which suggests actions of negative selection.

Armin P. Schoech
Daniel M. Jordan
Alkes L. Price
ResearchOpen Access15 Feb 2019
Nature Communications

Volume: 10, P: 1-10
Reply to ‘Selective effects of heterozygous protein-truncating variants’

Christopher A. Cassa
Donate Weghorn
Shamil R. Sunyaev
Correspondence26 Nov 2018
Nature Genetics

Volume: 51, P: 3-4
Estimating the selective effects of heterozygous protein-truncating variants from human exome data

Shamil Sunyaev, David Beier and colleagues report an analysis of the fitness effects of heterozygous protein-truncating variants from the Exome Aggregation Consortium. They find that high heterozygous selection coefficients are enriched in Mendelian disease-associated genes and essential mouse genes, suggesting that this coefficient can be used to prioritize candidate disease-associated genes from clinical exome-sequencing data.

Christopher A Cassa
Donate Weghorn
Shamil R Sunyaev
Research03 Apr 2017
Nature Genetics

Volume: 49, P: 806-810
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription

Roulette enables the estimation of germline mutation rates at basepair resolution from humans. Genes encoding small nuclear RNA showed significant deviations from the mutation rate predicted by Roulette, highlighting RNA polymerase III (Pol III)-dependent transcription as a potent source of mutations in the human genome.

Vladimir Seplyarskiy
Evan M. Koch
Shamil R. Sunyaev
Research30 Nov 2023
Nature Genetics

Volume: 55, P: 2235-2242
No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

David Reich, Shamil Sunyaev and colleagues report an analysis of the per-genome accumulation of nonsynonymous substitutions across diverse pairs of human populations. They find no evidence for a higher load of deleterious mutations in non-Africans than in West Africans and show that the observed patterns are not likely to reflect changes in natural selection.

Ron Do
Daniel Balick
David Reich
Research12 Jan 2015
Nature Genetics

Volume: 47, P: 126-131
Identification of cis-suppression of human disease mutations by comparative genomics

Patterns of amino acid conservation have been used to guide the interpretation of the disease-causing potential of genetic variants in patients; now, an appreciable fraction of pathogenic alleles are shown to be fixed in the genomes of other species, suggesting that the genomic context has an important role in allele pathogenicity.

Daniel M. Jordan
Stephan G. Frangakis
Nicholas Katsanis
Research29 Jun 2015
Nature

Volume: 524, P: 225-229

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Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths

Microsecond-resolved XAFS of the triplet excited state of Pt₂(P₂O₅H₂)^4–₄

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

Reply to ‘Selective effects of heterozygous protein-truncating variants’

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

A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

Identification of cis-suppression of human disease mutations by comparative genomics

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