Human Germline Mutation and the Erratic Evolutionary Clock

Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers

(2016) Norman Arnheim et al.   Annual Review of Genomics and Human Genetics

The mutation rate in human evolution and demographic inference

(2016) Aylwyn Scally   CURRENT OPINION IN GENETICS & DEVELOPMENT

Inferences from tip-calibrated phylogenies: a review and a practical guide

(2016) Adrien Rieux et al.   MOLECULAR ECOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

(2016) Jakob M Goldmann et al.   NATURE GENETICS

Physical and neurobehavioral determinants of reproductive onset and success

(2016) Felix R Day et al.   NATURE GENETICS

Life history effects on the molecular clock of autosomes and sex chromosomes

(2016) Guy Amster et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Variation in the molecular clock of primates

(2016) Priya Moorjani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

New observations on maternal age effect on germline de novo mutations

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

Interpreting the Dependence of Mutation Rates on Age and Time

(2016) Ziyue Gao et al.   PLOS BIOLOGY

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

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

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice

(2015) Arikuni Uchimura et al.   GENOME RESEARCH

Genome-wide patterns and properties of de novo mutations in humans

(2015) Laurent C Francioli et al.   NATURE GENETICS

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

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

The origins, determinants, and consequences of human mutations

(2015) J. Shendure et al.   SCIENCE

The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline

(2015) Adeolu B. Adewoye et al.   Nature Communications

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

(2015) Søren Besenbacher et al.   Nature Communications

Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes

(2015) Mark Lipson et al.   PLoS Genetics

Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

(2015) Amy L Williams et al.   eLife

Lineage Sorting in Apes

(2014) Thomas Mailund et al.   Annual Review of Genetics

Determinants of Mutation Rate Variation in the Human Germline

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

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

Generation time, life history and the substitution rate of neutral mutations

(2014) J. Lehtonen et al.   Biology Letters

Mutational signatures: the patterns of somatic mutations hidden in cancer genomes

(2014) Ludmil B Alexandrov et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genome sequencing of normal cells reveals developmental lineages and mutational processes

(2014) Sam Behjati et al.   NATURE

Genome sequence of a 45,000-year-old modern human from western Siberia

(2014) Qiaomei Fu et al.   NATURE

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

Inferring human population size and separation history from multiple genome sequences

(2014) Stephan Schiffels et al.   NATURE GENETICS

Strong male bias drives germline mutation in chimpanzees

(2014) O. Venn et al.   SCIENCE

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Mutation Rate Is Increasing, Even As It Slows

(2013) Gregg W.C. Thomas et al.   MOLECULAR BIOLOGY AND EVOLUTION

Great ape genetic diversity and population history

(2013) Javier Prado-Martinez et al.   NATURE

Properties and rates of germline mutations in humans

(2013) Catarina D. Campbell et al.   TRENDS IN GENETICS

Cellular evidence for selfish spermatogonial selection in aged human testes

(2013) G. J. Maher et al.   Andrology

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Insights into hominid evolution from the gorilla genome sequence

(2012) Aylwyn Scally et al.   NATURE

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

Revising the human mutation rate: implications for understanding human evolution

(2012) Aylwyn Scally et al.   NATURE REVIEWS GENETICS

Generation times in wild chimpanzees and gorillas suggest earlier divergence times in great ape and human evolution

(2012) K. E. Langergraber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evidence for elevated mutation rates in low-quality genotypes

(2012) N. P. Sharp et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DO VARIATIONS IN SUBSTITUTION RATES AND MALE MUTATION BIAS CORRELATE WITH LIFE-HISTORY TRAITS? A STUDY OF 32 MAMMALIAN GENOMES

(2011) Melissa A. Wilson Sayres et al.   EVOLUTION

Time-dependent rates of molecular evolution

(2011) SIMON Y. W. HO et al.   MOLECULAR ECOLOGY

Whole genome sequencing for quantifying germline mutation frequency in humans and model species: Cautious optimism

(2011) Marc A. Beal et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

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

(2011) Donald F Conrad et al.   NATURE GENETICS

Genotype and SNP calling from next-generation sequencing data

(2011) Rasmus Nielsen et al.   NATURE REVIEWS GENETICS

A Molecular Phylogeny of Living Primates

(2011) Polina Perelman et al.   PLoS Genetics

Measurements of spontaneous rates of mutations in the recent past and the near future

(2010) F. A. Kondrashov et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

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

Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes

(2009) Laurent Duret et al.   Annual Review of Genomics and Human Genetics

Sperm competition and sperm length influence the rate of mammalian spermatogenesis

(2009) S. A. Ramm et al.   Biology Letters

The temperature influence on the spontaneous mutation rate

(2009) DAG LINDGREN   HEREDITAS