De novo rates and selection of large copy number variation.
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Lamarckian evolution explains human brain evolution and psychiatric disordersA preliminary study of copy number variation in TibetansModernizing reference genome assembliesCNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum DisorderMechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsFifteen years of genomewide scans for selection: trends, lessons and unaddressed genetic sources of complicationThe developmental transcriptome of the human brain: implications for neurodevelopmental disordersA genetic model for neurodevelopmental diseaseCNVs: harbingers of a rare variant revolution in psychiatric geneticsAdvancing the understanding of autism disease mechanisms through geneticsPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseExploring the role of copy number variants in human adaptationRepublished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetimeAssessment of megabase-scale somatic copy number variation using single-cell sequencingNon-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetimeAbnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cellsThe case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansionNovel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular MalaysiaProperties and rates of germline mutations in humansMultiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismA copy number variation morbidity map of developmental delayDetection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry.Functional comparison between genes dysregulated in ulcerative colitis and colorectal carcinoma.Precise estimates of mutation rate and spectrum in yeast.Identification of structural variation in mouse genomes.A computational framework discovers new copy number variants with functional importanceThe genetic variability and commonality of neurodevelopmental disease.Mouse Models of 22q11.2-Associated Autism Spectrum DisorderThe landscape of inherited and de novo copy number variants in a Plasmodium falciparum genetic cross.ESRRA-C11orf20 is a recurrent gene fusion in serous ovarian carcinoma.Interpretation of array comparative genome hybridization data: a major challenge.Genomic studies in fragile X premutation carriers.AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences.Aging genomes: a necessary evil in the logic of life.Rare copy number variants contribute to congenital left-sided heart disease.De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining.
P2860
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P2860
De novo rates and selection of large copy number variation.
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
name
De novo rates and selection of large copy number variation.
@ast
De novo rates and selection of large copy number variation.
@en
De novo rates and selection of large copy number variation.
@nl
type
label
De novo rates and selection of large copy number variation.
@ast
De novo rates and selection of large copy number variation.
@en
De novo rates and selection of large copy number variation.
@nl
prefLabel
De novo rates and selection of large copy number variation.
@ast
De novo rates and selection of large copy number variation.
@en
De novo rates and selection of large copy number variation.
@nl
P2093
P2860
P356
P1433
P1476
De novo rates and selection of large copy number variation.
@en
P2093
Andy Itsara
Deborah A Nickerson
Evan E Eichler
Isabelle Romieu
Joshua D Smith
P2860
P304
P356
10.1101/GR.107680.110
P577
2010-09-14T00:00:00Z