Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. - Wikidata - wikimedia - TriplyDB

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

http://www.wikidata.org/entity/Q34288706

about

Unrevealed mosaicism in the next-generation sequencing era Somatic mosaicism: implications for disease and transmission genetics Structural variation mutagenesis of the human genome: Impact on disease and evolution.New insights into the generation and role of de novo mutations in health and disease Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects Mutation rates and the evolution of germline structure WDR45 mutations in three male patients with West syndrome.MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.Timing, rates and spectra of human germline mutation.Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Clinical genomics: from a truly personal genome viewpoint.Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.Mosaicism in ATP1A3-related disorders: not just a theoretical risk.Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.Recent developments in genetics and medically assisted reproduction: from research to clinical applications

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P2860

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

http://www.wikidata.org/entity/Q34288706

description

2014 nî lūn-bûn

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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Parent of origin, mosaicism, a ...... etry of transmission genetics.

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Parent of origin, mosaicism, a ...... etry of transmission genetics.

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Parent of origin, mosaicism, a ...... etry of transmission genetics.

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Parent of origin, mosaicism, a ...... etry of transmission genetics.

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Parent of origin, mosaicism, a ...... etry of transmission genetics.

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P356

J.AJHG.2014.08.010

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American Journal of Human Genetics

P1476

Parent of origin, mosaicism, a ...... etry of transmission genetics.

@en

P2093

Chad A Shaw

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James R Lupski

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Jonathan R Stewart

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Paweł Stankiewicz

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Peter Olofsson

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Regis A James

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P2860

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

Rates of spontaneous mutation

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

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

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

The molecular anatomy of spontaneous germline mutations in human testes.

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

Recurrence risk for sibs of children with "sporadic" achondroplasia.

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.

Somatic mosaicism in hemophilia A: a fairly common event.

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345-359

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10.1016/J.AJHG.2014.08.010

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4

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95

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Ian M. Campbell

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2014-09-18T00:00:00Z

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266027118

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25242496

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probabilistic modeling

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4185125

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