exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
about
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselorsHomozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Ocular Phenotype of a Family with FAM161A-associated Retinal DegenerationInvestigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.BrowseVCF: a web-based application and workflow to quickly prioritize disease-causative variants in VCF files.Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders.Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.A mutation in IFT43 causes non-syndromic recessive retinal degeneration.Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
P2860
Q30724946-054C2F25-A057-4345-9CC7-90521DE4F3E9Q33580236-329A3185-560D-40D2-9853-8854D49B0338Q34893378-8034A4AB-11F9-4411-952E-A8BF1D6F85E8Q35767994-F5DB45DD-12B6-443F-B69E-01CD758BC1FEQ36375700-E1B8D8AC-1C68-4C76-A5EF-B69DFB746324Q38947504-42B537E7-540E-47D1-AA0D-0739CBBD484CQ39635768-E83D9373-B422-494E-9E37-AE89DA26A31EQ41106431-F48662B0-9CF3-4A2D-96AC-6A955E9FD7EEQ41443238-76C1EE6F-73C2-4506-97BD-1F4DDFB75809Q46060999-1764A1AD-44E5-472B-93CE-EEBABEDABC0EQ46182724-74B1348B-7533-4404-9021-297D3F2D76A9Q46241142-A8251901-5FF9-441B-9CFC-32ACBB7149CAQ46527147-758E8CF8-7D9D-402B-A913-13CB12B0F664
P2860
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@ast
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@en
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@nl
type
label
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@ast
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@en
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@nl
prefLabel
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@ast
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@en
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@nl
P2093
P2860
P1433
P1476
exomeSuite: Whole exome sequen ...... e disease causing SNVs/indels.
@en
P2093
B Maranhao
J F Hejtmancik
J L Duncan
J R Heckenlively
K E Branham
R Ayyagari
P2860
P304
P356
10.1016/J.YGENO.2014.02.006
P577
2014-02-01T00:00:00Z