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

Differences in the rare variant spectrum among human populations

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Rapid evolution of the human mutation spectrum

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BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

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A genetic method for dating ancient genomes provides a direct estimate of human generation interval in the last 45,000 years

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

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

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

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

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

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

Determinants of Mutation Rate Variation in the Human Germline

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

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Cohort Profile: The Born in Bradford multi-ethnic family cohort study

(2012) J. Wright et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Enhanced diabetes care to patients of south Asian ethnic origin (the United Kingdom Asian Diabetes Study): a cluster randomised controlled trial

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