Targeted capture and massively parallel sequencing of 12 human exomes - Wikidata - awgldk - TriplyDB

Targeted capture and massively parallel sequencing of 12 human exomes

Targeted capture and massively parallel sequencing of 12 human exomes

http://www.wikidata.org/entity/Q24615381

about

OTX2 duplication is implicated in hemifacial microsomia Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.Extraordinary molecular evolution in the PRDM9 fertility gene Exome sequencing identifies ZNF644 mutations in high myopia Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease Modernizing reference genome assemblies Enrichment of sequencing targets from the human genome by solution hybridization Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia A comparative analysis of exome capture Human genetics and genomics a decade after the release of the draft sequence of the human genome Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies Critical evaluation of imprinted gene expression by RNA-Seq: a new perspective Human genome sequencing in health and disease Analysis of genetic inheritance in a family quartet by whole-genome sequencing Genetic diagnosis by whole exome capture and massively parallel DNA sequencing The genetics of attention deficit/hyperactivity disorder in adults, a review Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD Personalized medicine: hope or hype?Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron Whole-exome-sequencing-based discovery of human FADD deficiency Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.A population-specific HTR2B stop codon predisposes to severe impulsivity Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy Analysis of the genome to personalize therapy for melanoma Next-generation sequencing in aging research: emerging applications, problems, pitfalls and possible solutions Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis Exome sequencing identifies the cause of a mendelian disorder

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Targeted capture and massively parallel sequencing of 12 human exomes

http://www.wikidata.org/entity/Q24615381

description

2009 nî lūn-bûn

@nan

2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2009年の論文

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2009年論文

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2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

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2009年論文

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2009年论文

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name

Targeted capture and massively parallel sequencing of 12 human exomes

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Targeted capture and massively parallel sequencing of 12 human exomes

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Targeted capture and massively parallel sequencing of 12 human exomes

@nl

type

label

Targeted capture and massively parallel sequencing of 12 human exomes

@ast

Targeted capture and massively parallel sequencing of 12 human exomes

@en

Targeted capture and massively parallel sequencing of 12 human exomes

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prefLabel

Targeted capture and massively parallel sequencing of 12 human exomes

@ast

Targeted capture and massively parallel sequencing of 12 human exomes

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Targeted capture and massively parallel sequencing of 12 human exomes

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Targeted capture and massively parallel sequencing of 12 human exomes

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Abigail W Bigham

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Arindam Bhattacharjee

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Choli Lee

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Deborah A Nickerson

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Michael Bamshad

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Michelle Wong

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Peggy D Robertson

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Sarah B Ng

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Steven D Flygare

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Tristan Shaffer

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P2860

The diploid genome sequence of an individual human

Genetic variation in an individual human exome

The diploid genome sequence of an Asian individual

Mapping and sequencing of structural variation from eight human genomes

The complete genome of an individual by massively parallel DNA sequencing

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

When less is more: gene loss as an engine of evolutionary change

Accurate whole human genome sequencing using reversible terminator chemistry

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

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10.1038/NATURE08250

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7261

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461

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Evan E. Eichler

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2009-09-10T00:00:00Z

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26745751

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1038593056

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19684571

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