Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

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

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(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

Prevalence and architecture of de novo mutations in developmental disorders

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Differences in the rare variant spectrum among human populations

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(2016) Walfred W. C. Tang et al.   NATURE REVIEWS GENETICS

New observations on maternal age effect on germline de novo mutations

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

Human Germline Mutation and the Erratic Evolutionary Clock

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Multi-nucleotide de novo Mutations in Humans

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

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(2015) Richard A. Gibbs et al.   NATURE

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Timing, rates and spectra of human germline mutation

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Somatic mosaicism: implications for disease and transmission genetics

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

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Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

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Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

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SAMBLASTER: fast duplicate marking and structural variant read extraction

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A genomic view of mosaicism and human disease

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The Dynamics of Genome-wide DNA Methylation Reprogramming in Mouse Primordial Germ Cells

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

(2012) Augustine Kong et al.   NATURE

De novo mutations in human genetic disease

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Revising the human mutation rate: implications for understanding human evolution

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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

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Haldane and the first estimates of the human mutation rate

(2009) Michael W. Nachman   JOURNAL OF GENETICS

From Linkage Maps to Quantitative Trait Loci: The History and Science of the Utah Genetic Reference Project

(2008) Stephen M. Prescott et al.   Annual Review of Genomics and Human Genetics