Copy number variation in human health, disease, and evolution.
about
Current challenges in the bioinformatics of single cell genomics.Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domesticationOver-expression of DSCAM and COL6A2 cooperatively generates congenital heart defectsHuman genome sequencing in health and diseaseDELLY: structural variant discovery by integrated paired-end and split-read analysisGenome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controlsNovel bioinformatic developments for exome sequencingMechanisms underlying structural variant formation in genomic disordersImage processing for optical mappingPairomics, the omics way to mate choiceGene duplication, tissue-specific gene expression and sexual conflict in stalk-eyed flies (Diopsidae)Genetics of immunological and inflammatory components in age-related macular degenerationGenetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigeneticsGene overexpression: uses, mechanisms, and interpretationGene duplication as a mechanism of genomic adaptation to a changing environmentCNVs: harbingers of a rare variant revolution in psychiatric geneticsModified screening and ranking algorithm for copy number variation detection.Generation of tandem direct duplications by reversed-ends transposition of maize ac elementsPhenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsA duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menDetection of Genomic Structural Variants from Next-Generation Sequencing DataFunctional consequences of 17q21.31/WNT3-WNT9B amplification in hPSCs with respect to neural differentiationThe contribution of de novo coding mutations to autism spectrum disorderPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseThe clustering of functionally related genes contributes to CNV-mediated diseasePeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing dataSomatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genomeUse of single nucleotide polymorphism array technology to improve the identification of chromosomal lesions in leukemiaCohesin Is limiting for the suppression of DNA damage-induced recombination between homologous chromosomesClinical interpretation of CNVs with cross-species phenotype dataInteraction-based evolution: how natural selection and nonrandom mutation work togetherOn the origins of Mendelian disease genes in man: the impact of gene duplicationMeiotic recombination initiation in and around retrotransposable elements in Saccharomyces cerevisiaeThe Growing Importance of CNVs: New Insights for Detection and Clinical InterpretationMan's best friend becomes biology's best in show: genome analyses in the domestic dogThe genetic effect of copy number variations on the risk of type 2 diabetes in a Korean populationCopy number variation, chromosome rearrangement, and their association with recombination during avian evolutionMassive screening of copy number population-scale variation in Bos taurus genomePsychomotor retardation with a 1q42.11–q42.12 deletionNetwork biology concepts in complex disease comorbidities
P2860
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P2860
Copy number variation in human health, disease, and evolution.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Copy number variation in human health, disease, and evolution.
@ast
Copy number variation in human health, disease, and evolution.
@en
Copy number variation in human health, disease, and evolution.
@nl
type
label
Copy number variation in human health, disease, and evolution.
@ast
Copy number variation in human health, disease, and evolution.
@en
Copy number variation in human health, disease, and evolution.
@nl
prefLabel
Copy number variation in human health, disease, and evolution.
@ast
Copy number variation in human health, disease, and evolution.
@en
Copy number variation in human health, disease, and evolution.
@nl
P2093
P2860
P1476
Copy number variation in human health, disease, and evolution.
@en
P2093
James R Lupski
Matthew E Hurles
P2860
P304
P356
10.1146/ANNUREV.GENOM.9.081307.164217
P50
P577
2009-01-01T00:00:00Z