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Estimating the human mutation rate using autozygosity in a founder population

Estimating the human mutation rate using autozygosity in a founder population

http://www.wikidata.org/entity/Q24622247

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An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa Fifteen years of genomewide scans for selection: trends, lessons and unaddressed genetic sources of complication DNA methylation, its mediators and genome integrity Novel diet-related mouse model of colon cancer parallels human colon cancer The contribution of de novo coding mutations to autism spectrum disorder Epigenetic reduction of DNA repair in progression to gastrointestinal cancer The complete genome sequence of a Neanderthal from the Altai Mountains Mutation and Human Exceptionalism: Our Future Genetic Load Predicting Carriers of Ongoing Selective Sweeps without Knowledge of the Favored Allele Human Germline Mutation and the Erratic Evolutionary Clock Mutation rates and the evolution of germline structure Human Dispersal Out of Africa: A Lasting Debate Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes Y chromosomes of 40% Chinese descend from three Neolithic super-grandfathers Properties and rates of germline mutations in humans Inferring demography from runs of homozygosity in whole-genome sequence, with correction for sequence errors A framework for the interpretation of de novo mutation in human disease Strategies to enable the adoption of animal biotechnology to sustainably improve global food safety and security.Khoisan hunter-gatherers have been the largest population throughout most of modern-human demographic history Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing The effects of demography and long-term selection on the accuracy of genomic prediction with sequence data.PRIMAL: Fast and accurate pedigree-based imputation from sequence data in a founder population Sequencing your genome: what does it mean?Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.Clustered and genome-wide transient mutagenesis in human cancers: Hypermutation without permanent mutators or loss of fitness General triallelic frequency spectrum under demographic models with variable population size Signals of historical interlocus gene conversion in human segmental duplications.Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level Crossovers are associated with mutation and biased gene conversion at recombination hotspots Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing Non-crossover gene conversions show strong GC bias and unexpected clustering in humans A Bayesian framework for de novo mutation calling in parents-offspring trios.Exploring population size changes using SNP frequency spectra Interlocus gene conversion explains at least 2.7% of single nucleotide variants in human segmental duplications.Genome-wide patterns and properties of de novo mutations in humans.Global diversity, population stratification, and selection of human copy-number variation.

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Estimating the human mutation rate using autozygosity in a founder population

http://www.wikidata.org/entity/Q24622247

description

2012 nî lūn-bûn

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2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2012 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Estimating the human mutation rate using autozygosity in a founder population

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Estimating the human mutation rate using autozygosity in a founder population

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Estimating the human mutation rate using autozygosity in a founder population

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Estimating the human mutation rate using autozygosity in a founder population

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Estimating the human mutation rate using autozygosity in a founder population

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Estimating the human mutation rate using autozygosity in a founder population

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Estimating the human mutation rate using autozygosity in a founder population

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Estimating the human mutation rate using autozygosity in a founder population

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Estimating the human mutation rate using autozygosity in a founder population

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Nature Genetics

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Estimating the human mutation rate using autozygosity in a founder population

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Arthur Ko

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Beth L Dumont

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Catarina D Campbell

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Laura Vives

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Lide Han

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Maika Malig

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Mark Abney

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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

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

Rates of spontaneous mutation

Estimate of the mutation rate per nucleotide in humans

A map of human genome variation from population-scale sequencing

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

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

Fast and accurate short read alignment with Burrows-Wheeler transform

PLINK: a tool set for whole-genome association and population-based linkage analyses

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

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1277-81

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scholarly article

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323143

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10.1038/NG.2418

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11

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44

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Peter H Sudmant

Jessica X. Chong

Evan E. Eichler

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2012-11-01T00:00:00Z

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235431956

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1038029042

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23001126

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3483378

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