Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. - Wikidata - wikimedia - TriplyDB

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

http://www.wikidata.org/entity/Q33865401

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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.Characterizing complex structural variation in germline and somatic genomes Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration Design of large-insert jumping libraries for structural variant detection using Illumina sequencing Targeted 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 sample ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9 Deciphering 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 disorders A 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 Variation Molecular 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 information Defining 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 disabilities Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus Actin 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.

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Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

http://www.wikidata.org/entity/Q33865401

description

2011 nî lūn-bûn

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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Next-generation sequencing str ...... gnostics and genetic research.

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Next-generation sequencing str ...... gnostics and genetic research.

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Next-generation sequencing str ...... gnostics and genetic research.

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Next-generation sequencing str ...... gnostics and genetic research.

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Next-generation sequencing str ...... gnostics and genetic research.

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Next-generation sequencing str ...... gnostics and genetic research.

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J.AJHG.2011.03.013

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American Journal of Human Genetics

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Next-generation sequencing str ...... gnostics and genetic research.

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Adrian Heilbut

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Amelia Lindgren

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Andrew Kirby

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Bhavana Muddukrishna

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Carl Ernst

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Carrie Hanscom

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Colby Chiang

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Cynthia C Morton

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Mark Borowsky

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Michael E Talkowski

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P2860

Accurate whole human genome sequencing using reversible terminator chemistry

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Paired-end mapping reveals extensive structural variation in the human genome

Fast and accurate short read alignment with Burrows-Wheeler transform

ARACHNE: a whole-genome shotgun assembler

The Sequence Alignment/Map format and SAMtools

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Repbase update: a database and an electronic journal of repetitive elements

SSAHA: a fast search method for large DNA databases

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469-481

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scholarly article

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10.1016/J.AJHG.2011.03.013

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4

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88

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James F. Gusella

Mark Joseph Daly

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2011-04-01T00:00:00Z

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51033286

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21473983

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3071919

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