Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitorsDisruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesThe haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell lineComplex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.Characterizing complex structural variation in germline and somatic genomesComplex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integrationDesign of large-insert jumping libraries for structural variant detection using Illumina sequencingTargeted next-generation sequencing at copy-number breakpoints for personalized analysis of rearranged ends in solid tumors.Next-generation sequencing for cancer diagnostics: a practical perspective.Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.Clinical diagnosis by whole-genome sequencing of a prenatal sampleViVar: a comprehensive platform for the analysis and visualization of structural genomic variationEfficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Evaluation of four genetic variants in han chinese subjects with high myopia.Detection of chromosomal breakpoints in patients with developmental delay and speech disordersA robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing.Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.A genome-wide analysis of Cas9 binding specificity using ChIP-seq and targeted sequence capture.Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.Introduction to bioinformatics: sequencing technology.Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural VariationMolecular characterization of ring chromosome 18 by low-coverage next generation sequencing.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Histone modifications predispose genome regions to breakage and translocation.Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.Quantitative detection of rare interphase chromosome breaks and translocations by high-throughput imaging.Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.Discovery of large genomic inversions using long range informationDefining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn.Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilitiesExonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusActin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.Genetic variations and associated pathophysiology in the management of epilepsy.Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.SV-STAT accurately detects structural variation via alignment to reference-based assemblies.
P2860
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P2860
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Next-generation sequencing str ...... gnostics and genetic research.
@ast
Next-generation sequencing str ...... gnostics and genetic research.
@en
type
label
Next-generation sequencing str ...... gnostics and genetic research.
@ast
Next-generation sequencing str ...... gnostics and genetic research.
@en
prefLabel
Next-generation sequencing str ...... gnostics and genetic research.
@ast
Next-generation sequencing str ...... gnostics and genetic research.
@en
P2093
P2860
P1476
Next-generation sequencing str ...... gnostics and genetic research.
@en
P2093
Adrian Heilbut
Amelia Lindgren
Andrew Kirby
Bhavana Muddukrishna
Carl Ernst
Carrie Hanscom
Colby Chiang
Cynthia C Morton
Mark Borowsky
Michael E Talkowski
P2860
P304
P356
10.1016/J.AJHG.2011.03.013
P407
P577
2011-04-01T00:00:00Z