SVA: software for annotating and visualizing sequenced human genomes - Wikidata - awgldk - TriplyDB

SVA: software for annotating and visualizing sequenced human genomes

SVA: software for annotating and visualizing sequenced human genomes

http://www.wikidata.org/entity/Q34188360

about

Improved exome prioritization of disease genes through cross-species phenotype comparison Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Clinical application of exome sequencing in undiagnosed genetic conditions Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy Visualizing genome and systems biology: technologies, tools, implementation techniques and trends, past, present and future Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease Bioinformatics for personal genome interpretation The 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 computer VPA: 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 Approach Next 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 Sequencing Patient-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 analyzer A 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 glomerulosclerosis Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.Translating Mendelian and complex inheritance of Alzheimer's disease genes for predicting unique personal genome variants A 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

Q23815226-3F64B103-3FD3-4051-8D8E-70A548143D07 Q24293205-5688656B-4449-4408-B7EB-8739D4DDD61F Q24600468-10B849DE-6161-44E5-ABC9-0AE7555DE7F0 Q24604127-08A6A5AC-F05A-426D-97EF-6C17E1DB18C7 Q24620622-A5A25092-D7EA-4CFA-9C57-CC13888C5831 Q26796849-C7AE2CAC-7FC5-44FC-B7F2-12B000C5286D Q28115754-A6BD2109-A1B6-4E54-9E98-24F8AEBA63FE Q28118952-C3247258-A2F9-4255-97C2-18A38E6A2875 Q28706718-416D1CF9-0DEA-49A7-83C7-91EA2C18C0E7 Q28728835-47DDD727-67B0-4430-ACEA-16E79BBCCBD7 Q30453771-8E17ABD8-1BF2-492C-AC6B-C7111D01A36F Q30557070-751ABDB1-4301-4118-86C2-B8FC7D102EFD Q30657267-A6E068AB-7110-4379-8A3B-E5C1E2BB5A23 Q30670690-FA1EE8BC-7F2A-48F8-AEE9-3E11E8DBB89A Q31003638-0AF5A35C-908D-48FE-9281-84C53D567662 Q33981063-9A70F594-B45D-4F9C-A112-1EF6CE341457 Q34033294-4FA12382-538D-47DE-A92A-101B95D613F7 Q34070504-827D8442-4C13-4CF6-BB04-5A3C570C2A85 Q34115271-030D93F6-807D-4579-BFE9-1AAB76654D97 Q34127327-E2E98611-B9FB-44E1-A952-21BA1260A406 Q34132477-9810CCDF-0B09-4240-A357-83E21D612C8A Q34211322-5FA278C3-381F-4725-A878-B87AE9998664 Q34242488-806199FE-3439-40BF-8570-49B13C1335D9 Q34281023-7694408F-C359-4163-B6E7-BB07CC2C1F13 Q34346566-63340CC4-5626-44D5-8372-085EA0445470 Q34369145-D4CF7D35-470C-4F63-87DD-AC6A4933DFB0 Q34377360-65DC9B1B-0FE4-4FE3-9E51-A5668A85E89E Q34457238-92A60240-5E84-463E-9B03-720560465EFA Q34463864-03BBCFD1-57B6-4896-BBE3-12CE00A88C8C Q34557864-36F3449A-3337-45F2-91C9-B078432A89BB Q34558011-89FE4A2A-8EB2-4A9B-9D94-410808CE0D90 Q34577537-9331ED7D-681E-45BF-85FC-B18A0FC0DF1C Q35112487-E3336C46-B0B9-49F9-A0C3-2A81E6A854AA Q35751270-DE82E2B1-E8EC-4691-B74C-069960E99BB0 Q35766082-0A794A05-FFCF-4F55-ABFE-5CC76140A50E Q36088328-9B03368C-5C31-46DC-B405-7D653CE96057 Q36276497-38F5B2B2-75C4-43B0-8E40-AAA7B1BC176B Q36375758-87DC2766-6FCB-4AFA-A7E3-211E94312FA2 Q36451504-730D74B3-F780-448D-B025-71DC421CC76B Q36605617-1AC653FB-81F8-4B7F-BE98-63CBDFBE7161

P2860

SVA: software for annotating and visualizing sequenced human genomes

http://www.wikidata.org/entity/Q34188360

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

P1433

Q34188360-39CE64FE-971B-4D3C-9DFE-80DE9747F1BC

P1476

Q34188360-1B4C1959-AF8E-44D4-B195-A83774D89D6D

P2093

Q34188360-0A8BCF91-8F92-4016-A88C-83B02406F6A4

Q34188360-27257CA0-7D13-439E-B7B7-0319EFC0FE0E

Q34188360-276BDCA4-E561-459B-85C5-C4F398B7FCC5

Q34188360-3BB52649-8B3A-4EC6-AC5E-C86BD6EF2D3A

Q34188360-5322C52C-B291-4AA6-8579-F9F35A37A560

Q34188360-69CFB308-5D2E-4629-A0CD-6111F29FFD38

Q34188360-69DED9D3-E646-4244-87C3-D92CE0D41D4A

Q34188360-7101B4D9-9BA5-4E5D-8D51-A3FD834E1D8F

Q34188360-8B1FE4B7-3EF7-4FDF-B448-BC41F67672EF

Q34188360-ACF94623-2F1C-40CA-B861-AB059610F2C3

P2860

Q34188360-01818BD1-5B8D-46FB-855A-4DF9A2F3AC95

Q34188360-0DD1A73B-29FC-45F6-96ED-41C21763F276

Q34188360-0E9E09ED-6BE2-46A6-8409-6D81BF0E3FEA

Q34188360-3240513C-3AE7-4553-B696-23001649B86F

Q34188360-33E00690-E282-4313-AD39-EDB018EA9632

Q34188360-3DC46E98-C3A5-43E2-B320-F14CD62D6FA4

Q34188360-5D76A76E-2D5B-4A15-8A8A-48A3DA28F137

Q34188360-64D9CFD6-B574-4CEE-8152-BED32E9355DF

Q34188360-72CA31CA-8F99-4BF8-ACE1-9A383485BC79

Q34188360-74FCB967-0E60-429F-9FBF-346097CE7BEE

P304

Q34188360-EF9F7874-DF8F-4525-B28B-1CD373244ED3

P31

Q34188360-80A4BEFA-F72F-4552-A28B-95F6DC63B60B

P356

Q34188360-B3B7DFF8-A648-4029-AD66-1B800480908A

P407

Q34188360-1F1C0C43-9DF4-47E9-852A-91049DC7201F

P433

Q34188360-253FA2D4-C7FF-4C7C-9B3D-7255A6F608B0

P478

Q34188360-0CAD9562-5358-4312-A976-BCDEE2E6E5C8

P50

Q34188360-31FB421F-13D5-4460-8BEE-C0568EA3D2A7

Q34188360-D357C241-DD3B-4710-B2F5-850F162BE8C7

P577

Q34188360-E0916AE9-B682-441F-A58B-90CD46F8C987

P5875

Q34188360-42A93D16-4CA6-49F2-A016-36A3672F75C3

P698

Q34188360-1FD7BA8E-E8DC-46F5-949C-46B3677EA6A5

P921

Q34188360-714F85BD-A9C6-4154-A5F8-5B0F05BBF9AA

P932

Q34188360-9D16FA2D-20ED-4864-B0C5-A28E43B5800B

P356

P1433

P1476

SVA: software for annotating and visualizing sequenced human genomes

@en

P2093

Abanish Singh

http://www.w3.org/2001/XMLSchema#string

Andrew S Allen

http://www.w3.org/2001/XMLSchema#string

David B Goldstein

http://www.w3.org/2001/XMLSchema#string

Dongliang Ge

http://www.w3.org/2001/XMLSchema#string

Elizabeth K Ruzzo

http://www.w3.org/2001/XMLSchema#string

Erin L Heinzen

http://www.w3.org/2001/XMLSchema#string

Jessica M Maia

http://www.w3.org/2001/XMLSchema#string

Kevin V Shianna

http://www.w3.org/2001/XMLSchema#string

Kimberly Pelak

http://www.w3.org/2001/XMLSchema#string

Min He

http://www.w3.org/2001/XMLSchema#string

P2860

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Gene ontology: tool for the unification of biology

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

Exome sequencing identifies the cause of a mendelian disorder

A map of human genome variation from population-scale sequencing

Accurate whole human genome sequencing using reversible terminator chemistry

P304

1998-2000

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/BIOINFORMATICS/BTR317

http://www.w3.org/2001/XMLSchema#string

P407

P433

14

http://www.w3.org/2001/XMLSchema#string

P478

27

http://www.w3.org/2001/XMLSchema#string

P50

Elizabeth T Cirulli

P577

2011-05-29T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

51176979

http://www.w3.org/2001/XMLSchema#string

P698

21624899

http://www.w3.org/2001/XMLSchema#string

P921

P932

3129530

http://www.w3.org/2001/XMLSchema#string