Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
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Exome sequencing identifies ZNF644 mutations in high myopiaLinkage analysis in the next-generation sequencing eraAccurate and comprehensive sequencing of personal genomesExome sequencing reveals VCP mutations as a cause of familial ALSDisease gene identification strategies for exome sequencingAmish revisited: next-generation sequencing studies of psychiatric disorders among the Plain peopleExome sequencing: a transformative technologyEvolution and functional impact of rare coding variation from deep sequencing of human exomesComparison of DNA Quantification Methods for Next Generation Sequencing.Massively parallel sequencing and rare disease.Efficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing.Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same geneAnalysis of genetic linkage data for Mendelian traits.The next generation of complex lung genetic studies.The characterization of twenty sequenced human genomes.Inference of relationships in population data using identity-by-descent and identity-by-state.Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling.VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computerStatistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.SVA: software for annotating and visualizing sequenced human genomesNext-generation sequencing for cancer diagnostics: a practical perspective.Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 geneSHP2 positively regulates TGFβ1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1.Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four CaucasiansDeep sequencing of patient genomes for disease diagnosis: when will it become routine?Common somatic alterations identified in maffucci syndrome by molecular karyotypingRapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.Clinical analysis of genome next-generation sequencing data using the Omicia platform.Glycobiology and the growth plate: current concepts in multiple hereditary exostosesIdentification of mutations in zebrafish using next-generation sequencing.SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fatesA mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.You never call, you never write: why return of 'omic' results to research participants is both a good idea and a moral imperative.Resolving the variable genome and epigenome in human disease.FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling.Molecular genetic studies of complex phenotypes.Comparison and evaluation of two exome capture kits and sequencing platforms for variant callingOverview of the development of personalized genomic medicine and surgeryIdentification of genetic association of multiple rare variants using collapsing methods.
P2860
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P2860
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@ast
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@en
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@en-gb
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@nl
type
label
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@ast
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@en
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@en-gb
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@nl
altLabel
Whole-Genome Sequencing of a S ...... ifies a Mendelian Disease Gene
@en
prefLabel
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@ast
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@en
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@en-gb
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@nl
P2093
P2860
P3181
P1433
P1476
Whole-genome sequencing of a s ...... ifies a Mendelian disease gene
@en
P2093
Curtis E Gumbs
David B Goldstein
David Valle
Dimitrios Avramopoulos
Dongliang Ge
Elizabeth Wohler
Eric L Stevens
George Thomas
Gretchen L Oswald
Jason P Smith
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1000991
P407
P577
2010-06-01T00:00:00Z