VaRank: a simple and powerful tool for ranking genetic variants
about
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-GolgiVariants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationQIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver diseaseExome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.Alström Syndrome: Mutation Spectrum of ALMS1.A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementDetection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisLoss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling.Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndromeNovel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidismGenetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
P2860
Q28593154-EEA4E47D-2459-4254-8A3F-13B8D1EA3250Q28771758-2C2F4A29-DCB8-4E3D-9CA0-1D370C4D00B7Q30374210-F9DD01CE-8E76-4DCA-B178-AC3B234E72D3Q34486302-25A241C9-9059-4589-A30F-209200368AC3Q35585269-4812DCF2-7FBD-4A4C-80BC-824D92CF8331Q35762928-3F99C7CB-0216-444E-A94F-1154A1416998Q36577378-91A694FD-BA29-4852-B7DF-D011CEF9FA1EQ36637825-CCFFA2F5-4067-4B9F-895A-DE6EC3D21001Q37589691-01220BD8-A4D8-4CB8-A894-0C5828C922FFQ38656663-73C3973C-032F-42D9-B5B5-F66BFCA2817BQ39067296-DA7112DF-2D36-47FC-A5D7-EB0785E0ECB5Q39125843-17E8F9B9-D359-4C7A-BF25-7E096089232CQ39393194-A496CE26-2D4E-48BC-BE14-96DFB027B990Q39797467-5DBB7458-E099-4A42-AEFB-5546818D0913Q41086254-57F173E8-3FB7-44B8-8493-84CC2A7720BBQ41337599-406C2449-4CDF-4626-80E7-11090FCCED0AQ42236757-CADF0B74-FCD2-4BDD-9F77-A397E345020BQ48015690-70164DA9-FE8B-44C5-98F5-122C65B3300AQ48541978-4A062860-9DC4-4F0A-A49F-32E125E785F1Q50106852-94303F85-1E47-4DE1-A24E-56A1B73A227BQ51062680-1AE1F4F1-9F7A-46B5-AC02-97C76678951AQ52562811-AA18A638-418B-4131-A3CD-70731F29DA36Q53210390-6B940DBE-7663-4683-9570-E796915C21AFQ57387311-728CD657-365F-4A4D-BFBF-43B0F7461596Q57387314-1BD5E9DA-D4CA-4768-85C1-C75923AA308EQ57491618-E618DD9D-834B-40C4-B7FA-4C3873535621
P2860
VaRank: a simple and powerful tool for ranking genetic variants
description
2015 nî lūn-bûn
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2015 թուականի Մարտին հրատարակուած գիտական յօդուած
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2015 թվականի մարտին հրատարակված գիտական հոդված
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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name
VaRank: a simple and powerful tool for ranking genetic variants
@ast
VaRank: a simple and powerful tool for ranking genetic variants
@en
type
label
VaRank: a simple and powerful tool for ranking genetic variants
@ast
VaRank: a simple and powerful tool for ranking genetic variants
@en
prefLabel
VaRank: a simple and powerful tool for ranking genetic variants
@ast
VaRank: a simple and powerful tool for ranking genetic variants
@en
P2093
P2860
P50
P356
P1433
P1476
VaRank: a simple and powerful tool for ranking genetic variants
@en
P2093
André Blavier
Claire Redin
Corinne Stoetzel
Jocelyn Laporte
Nasim Vasli
Véronique Geoffroy
P2860
P356
10.7717/PEERJ.796
P577
2015-03-03T00:00:00Z