Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.
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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsA novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian familyHigh-resolution copy number variation analysis of schizophrenia in Japan.Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural VariationUnbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Large Genomic Imbalances in Brugada Syndrome.A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects.Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdensTracking Cancer Genetic Evolution using OncoTrack.Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure casesGene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations.Exome sequencing and whole genome sequencing for the detection of copy number variation.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Contrasting mechanisms of de novo copy number mutagenesis suggest the existence of different classes of environmental copy number mutagens.Role of rare germline copy number variation in melanoma-prone patients.Co-regulation of paralog genes in the three-dimensional chromatin architectureA Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.Mapping of deletion breakpoints at the CDKN2A locus in melanoma: detection of MTAP-ANRIL fusion transcripts.Decoding NF1 Intragenic Copy-Number Variations.Genomic disorders 20 years on-mechanisms for clinical manifestations.Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.The contribution of 7q33 copy number variations for intellectual disability.Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.An Organismal CNV Mutator Phenotype Restricted to Early Human Development.Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple OsteochondromasClinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome
P2860
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P2860
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Next-generation sequencing of ...... e fusion genes at breakpoints.
@ast
Next-generation sequencing of ...... e fusion genes at breakpoints.
@en
Next-generation sequencing of ...... e fusion genes at breakpoints.
@nl
type
label
Next-generation sequencing of ...... e fusion genes at breakpoints.
@ast
Next-generation sequencing of ...... e fusion genes at breakpoints.
@en
Next-generation sequencing of ...... e fusion genes at breakpoints.
@nl
prefLabel
Next-generation sequencing of ...... e fusion genes at breakpoints.
@ast
Next-generation sequencing of ...... e fusion genes at breakpoints.
@en
Next-generation sequencing of ...... e fusion genes at breakpoints.
@nl
P2093
P2860
P1476
Next-generation sequencing of ...... e fusion genes at breakpoints.
@en
P2093
Brooke Weckselblatt
Karen E Hermetz
M Katharine Rudd
Scott Newman
P2860
P304
P356
10.1016/J.AJHG.2014.12.017
P407
P577
2015-01-29T00:00:00Z