Massively parallel sequencing: the next big thing in genetic medicine
about
Grapevine leafroll-associated virus 3Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defectsAutosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristicsMitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesToxicogenomic profiling of chemically exposed humans in risk assessmentTargeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79Clinical assessment incorporating a personal genomeMate-Pair Sequencing as a Powerful Clinical Tool for the Characterization of Cancers with a DNA Viral EtiologyImpact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologiesMolecular predictive markers in tumors of the gastrointestinal tractSystematic analysis and functional annotation of variations in the genome of an Indian individualRoutine use of microbial whole genome sequencing in diagnostic and public health microbiologySNP calling, genotype calling, and sample allele frequency estimation from New-Generation Sequencing dataAssessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.Single-step capture and sequencing of natural DNA for detection of BRCA1 mutationsNext generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology.Systems biology in the context of big data and networks.Underlying Data for Sequencing the Mitochondrial Genome with the Massively Parallel Sequencing Platform Ion Torrent™ PGM™A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing dataNext-generation sequencing.Targeted sequencing identifies genetic polymorphisms of flavin-containing monooxygenase genes contributing to susceptibility of nicotine dependence in European American and African AmericanAssessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.Managing Expectational Language: Translational genetic professionals consider the clinical potential of next-generation sequencing technologies.Determinants of renal disease variability in ADPKD.Improved detection of rare genetic variants for diseases.A new testing strategy to identify rare variants with either risk or protective effect on disease.On the future of genomic data.Only connect: personal genomics and the future of American medicine.Genetic causes of high and low serum HDL-cholesterol.Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.Transcriptional analysis of endocrine disruption using zebrafish and massively parallel sequencingSequencing by ligation variation with endonuclease V digestion and deoxyinosine-containing query oligonucleotides.Molecular diagnostics for autosomal dominant polycystic kidney diseaseSeqEM: an adaptive genotype-calling approach for next-generation sequencing studiesBIGpre: a quality assessment package for next-generation sequencing data.Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.Genes and mutations causing retinitis pigmentosa.Identification of some unknown transcripts from SSH cDNA library of buffalo follicular oocytes.Atlas2 Cloud: a framework for personal genome analysis in the cloud
P2860
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P2860
Massively parallel sequencing: the next big thing in genetic medicine
description
2009 nî lūn-bûn
@nan
2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Massively parallel sequencing: the next big thing in genetic medicine
@ast
Massively parallel sequencing: the next big thing in genetic medicine
@en
Massively parallel sequencing: the next big thing in genetic medicine
@nl
type
label
Massively parallel sequencing: the next big thing in genetic medicine
@ast
Massively parallel sequencing: the next big thing in genetic medicine
@en
Massively parallel sequencing: the next big thing in genetic medicine
@nl
prefLabel
Massively parallel sequencing: the next big thing in genetic medicine
@ast
Massively parallel sequencing: the next big thing in genetic medicine
@en
Massively parallel sequencing: the next big thing in genetic medicine
@nl
P2860
P3181
P1476
Massively parallel sequencing: the next big thing in genetic medicine
@en
P2093
Marco Marra
Tracy Tucker
P2860
P304
P3181
P356
10.1016/J.AJHG.2009.06.022
P407
P577
2009-08-01T00:00:00Z