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

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

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

http://www.wikidata.org/entity/Q22122055

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Revisiting an old riddle: what determines genetic diversity levels within species?Single cell genomics: advances and future perspectives A high-coverage genome sequence from an archaic Denisovan individual An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome Genome-wide detection of single-nucleotide and copy-number variations of a single human cell An African American paternal lineage adds an extremely ancient root to the human Y chromosome phylogenetic tree Estimating the human mutation rate using autozygosity in a founder population Rate of de novo mutations and the importance of father's age to disease risk Rates and fitness consequences of new mutations in humans Medical case reports in the age of genomic medicine CNVs: harbingers of a rare variant revolution in psychiatric genetics Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice New insights into the generation and role of de novo mutations in health and disease De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation Patterns and rates of exonic de novo mutations in autism spectrum disorders A de novo gain-of-function mutation in SCN11A causes loss of pain perception Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime Single-cell transcriptogenomics reveals transcriptional exclusion of ENU-mutated alleles Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime Genetic mosaics and the germ line lineage Human Germline Mutation and the Erratic Evolutionary Clock Direct estimate of the rate of germline mutation in a bird Discovery of a new repeat family in the Callithrix jacchus genome Whole-genome sequence analyses of Western Central African Pygmy hunter-gatherers reveal a complex demographic history and identify candidate genes under positive natural selection 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 Estimation of the spontaneous mutation rate in Heliconius melpomene X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations Properties and rates of germline mutations in humans Reconstructing the demographic history of the human lineage using whole-genome sequences from human and three great apes Selective constraints determine the time dependency of molecular rates for human nuclear genomes A direct characterization of human mutation based on microsatellites Chromosomal variation in lymphoblastoid cell lines A framework for the interpretation of de novo mutation in human disease Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

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

http://www.wikidata.org/entity/Q22122055

description

2011 nî lūn-bûn

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2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հուլիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

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

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

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

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type

label

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

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

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

@nl

prefLabel

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

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

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

@nl

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Nature Genetics

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

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Chris L Hartl

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Donald F Conrad

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Eric A Stone

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Jonathan E M Keebler

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Kiran V Garimella

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Mark A DePristo

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Martine Zilversmit

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Matthew E Hurles

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Youssef Idaghdour

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Yujun Zhang

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P2860

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

Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees.

Estimate of the mutation rate per nucleotide in humans

Evolution of the mutation rate

A map of human genome variation from population-scale sequencing

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

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree

Distribution and intensity of constraint in mammalian genomic sequence

Rate, molecular spectrum, and consequences of human mutation

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1318187

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10.1038/NG.862

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7

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Philip Awadalla

Sarah J. Lindsay

Mark Joseph Daly

Reed A Cartwright

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2011-07-01T00:00:00Z

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51212990

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