Clinical diagnosis by whole-genome sequencing of a prenatal sample - Wikidata - awgldk - TriplyDB

Clinical diagnosis by whole-genome sequencing of a prenatal sample

Clinical diagnosis by whole-genome sequencing of a prenatal sample

http://www.wikidata.org/entity/Q34315784

about

Recent advances in prenatal genetic screening and testing Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.Mechanisms for Structural Variation in the Human Genome The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine Design of large-insert jumping libraries for structural variant detection using Illumina sequencing Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.Finding novel molecular connections between developmental processes and disease.Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.A proposed clinical decision support architecture capable of supporting whole genome sequence information.The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information.Promises, pitfalls and practicalities of prenatal whole exome sequencing.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.DFLAT: functional annotation for human development.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.Clinical decision support for whole genome sequence information leveraging a service-oriented architecture: a prototype Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis.Exome Sequencing in Fetuses with Structural Malformations Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation Comparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects Recent advances of genomic testing in perinatal medicine 2012 highlights in translational 'omics.Early somatic mosaicism is a rare cause of long-QT syndrome.Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.Non-invasive prenatal testing for aneuploidy: current status and future prospects.Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities.Next-generation sequencing in childhood disorders.Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.Very early-onset inflammatory bowel disease: gaining insight through focused discovery.Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

http://www.wikidata.org/entity/Q34315784

description

2012 nî lūn-bûn

@nan

2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2012年の論文

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2012年論文

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2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

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2012年论文

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name

Clinical diagnosis by whole-genome sequencing of a prenatal sample

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

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type

label

Clinical diagnosis by whole-genome sequencing of a prenatal sample

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

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The New England Journal of Medicine

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Clinical diagnosis by whole-genome sequencing of a prenatal sample

@en

P2093

Carol B Benson

http://www.w3.org/2001/XMLSchema#string

Carrie Hanscom

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Cynthia C Morton

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Ian Blumenthal

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Jill A Rosenfeld

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Jonathan Picker

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Lisa G Shaffer

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Louise E Wilkins-Haug

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Shahrin Pereira

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Susan Connolly

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P2860

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

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Mutation update on the CHD7 gene involved in CHARGE syndrome

Fast and accurate long-read alignment with Burrows-Wheeler transform

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

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

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

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2226-2232

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scholarly article

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10.1056/NEJMOA1208594

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P433

23

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367

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James F. Gusella

Michael E. Talkowski

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2012-12-01T00:00:00Z

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23215558

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3579222

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