SVA: software for annotating and visualizing sequenced human genomes
about
Improved exome prioritization of disease genes through cross-species phenotype comparisonMutations in the gene that encodes the F-actin binding protein anillin cause FSGSDe novo mutations in ATP1A3 cause alternating hemiplegia of childhoodClinical application of exome sequencing in undiagnosed genetic conditionsExome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsyVisualizing genome and systems biology: technologies, tools, implementation techniques and trends, past, present and futureMutations in TNK2 in severe autosomal recessive infantile onset epilepsy.TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural functionAnnotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human diseaseBioinformatics for personal genome interpretationThe genetic landscape of mutations in Burkitt lymphoma.Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.Unraveling genomic variation from next generation sequencing data.STAR: an integrated solution to management and visualization of sequencing data.CRCDA--Comprehensive resources for cancer NGS data analysis.Sequencing studies in human genetics: design and interpretation.Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.Segtor: rapid annotation of genomic coordinates and single nucleotide variations using segment trees.VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computerVPA: an R tool for analyzing sequencing variants with user-specified frequency pattern.AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.ARYANA: Aligning Reads by Yet Another ApproachNext generation sequencing for molecular diagnosis of neuromuscular diseases.VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation SequencingPatient-controlled encrypted genomic data: an approach to advance clinical genomics.SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.A beginners guide to SNP calling from high-throughput DNA-sequencing data.EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.CooVar: co-occurring variant analyzerA survey of tools for variant analysis of next-generation genome sequencing data.Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies.Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosisScripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.Translating Mendelian and complex inheritance of Alzheimer's disease genes for predicting unique personal genome variantsA whole-genome analysis of premature termination codons.VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era.Var2GO: a web-based tool for gene variants selection.Next generation sequence analysis and computational genomics using graphical pipeline workflows.Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
P2860
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P2860
SVA: software for annotating and visualizing sequenced human genomes
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
SVA: software for annotating and visualizing sequenced human genomes
@ast
SVA: software for annotating and visualizing sequenced human genomes
@en
SVA: software for annotating and visualizing sequenced human genomes
@nl
type
label
SVA: software for annotating and visualizing sequenced human genomes
@ast
SVA: software for annotating and visualizing sequenced human genomes
@en
SVA: software for annotating and visualizing sequenced human genomes
@nl
prefLabel
SVA: software for annotating and visualizing sequenced human genomes
@ast
SVA: software for annotating and visualizing sequenced human genomes
@en
SVA: software for annotating and visualizing sequenced human genomes
@nl
P2093
P2860
P356
P1433
P1476
SVA: software for annotating and visualizing sequenced human genomes
@en
P2093
Abanish Singh
Andrew S Allen
David B Goldstein
Dongliang Ge
Elizabeth K Ruzzo
Erin L Heinzen
Jessica M Maia
Kevin V Shianna
Kimberly Pelak
P2860
P304
P356
10.1093/BIOINFORMATICS/BTR317
P407
P577
2011-05-29T00:00:00Z