De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

Characterizing mutagenic effects of recombination through a sequence-level genetic map

(2019) Bjarni V. Halldorsson et al.   SCIENCE

Overlooked roles of DNA damage and maternal age in generating human germline mutations

(2019) Ziyue Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes

(2019) Ipsita Agarwal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

(2018) Jakob M. Goldmann et al.   NATURE GENETICS

GC content elevates mutation and recombination rates in the yeastSaccharomyces cerevisiae

(2018) Denis A. Kiktev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire

(2018) Daniel N. Harris et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

(2018) Jedidiah Carlson et al.   Nature Communications

Multiple transmissions of de novo mutations in families

(2018) Hákon Jónsson et al.   NATURE GENETICS

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

(2017) Hákon Jónsson et al.   NATURE

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

(2017) Vagheesh M. Narasimhan et al.   Nature Communications

Rapid evolution of the human mutation spectrum

(2017) Kelley Harris et al.   eLife

Heterozygosity increases microsatellite mutation rate

(2016) William Amos   Biology Letters

Parent-of-origin-specific signatures of de novo mutations

(2016) Jakob M Goldmann et al.   NATURE GENETICS

Reference-based phasing using the Haplotype Reference Consortium panel

(2016) Po-Ru Loh et al.   NATURE GENETICS

Detection of human adaptation during the past 2000 years

(2016) Yair Field et al.   SCIENCE

New observations on maternal age effect on germline de novo mutations

(2016) Wendy S. W. Wong et al.   Nature Communications

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

(2015) Pier Francesco Palamara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parent–progeny sequencing indicates higher mutation rates in heterozygotes

(2015) Sihai Yang et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The effects of chromatin organization on variation in mutation rates in the genome

(2015) Kateryna D. Makova et al.   NATURE REVIEWS GENETICS

Crossovers are associated with mutation and biased gene conversion at recombination hotspots

(2015) Barbara Arbeithuber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evidence for recent, population-specific evolution of the human mutation rate

(2015) Kelley Harris   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

(2015) Søren Besenbacher et al.   Nature Communications

Determinants of Mutation Rate Variation in the Human Germline

(2014) Laure Ségurel et al.   Annual Review of Genomics and Human Genetics

A Bayesian framework for de novo mutation calling in parents-offspring trios

(2014) Qiang Wei et al.   BIOINFORMATICS

Genetic Variation in Human DNA Replication Timing

(2014) Amnon Koren et al.   CELL

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

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Improvement of Prediction Ability for Genomic Selection of Dairy Cattle by Including Dominance Effects

(2014) Chuanyu Sun et al.   PLoS One

RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference

(2013) Brian K. Maples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Variation in Heterozygosity Predicts Variation in Human Substitution Rates between Populations, Individuals and Genomic Regions

(2013) William Amos   PLoS One

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

(2012) Amnon Koren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Estimating the human mutation rate using autozygosity in a founder population

(2012) Catarina D Campbell et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Revising the human mutation rate: implications for understanding human evolution

(2012) Aylwyn Scally et al.   NATURE REVIEWS GENETICS

Living the Good Life? Mortality and Hospital Utilization Patterns in the Old Order Amish

(2012) Braxton D. Mitchell et al.   PLoS One

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Evolution of the mutation rate

(2010) Michael Lynch   TRENDS IN GENETICS

Heterozygosity and mutation rate: evidence for an interaction and its implications

(2009) William Amos   BIOESSAYS

Low cancer incidence rates in Ohio Amish

(2009) Judith A. Westman et al.   CANCER CAUSES & CONTROL

Heterozygosity increases microsatellite mutation rate, linking it to demographic history

(2008) William Amos et al.   BMC GENETICS