ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
about
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architectureSystematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicineNext-generation sequencing identifies transportin 3 as the causative gene for LGMD1FDe novo mutations in moderate or severe intellectual disability"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineWhole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvementMutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaExome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth diseaseWhole-Genome Resequencing of Experimental Populations Reveals Polygenic Basis of Egg-Size Variation in Drosophila melanogasterTREM2 Variants in Alzheimer's DiseaseGenetic studies of body mass index yield new insights for obesity biologyCRISPR/Cas9-mediated gene editing in human tripronuclear zygotesMedical implications of technical accuracy in genome sequencingImproved exome prioritization of disease genes through cross-species phenotype comparisonMutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismGain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeThe impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaAP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 traffickingSLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopiaHuman CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleedingJAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropeniaGermline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin FragilityInherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunityMutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsKLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronIdentification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyMutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairInherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndromeDe novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthoodMutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanLoss of δ-catenin function in severe autismMutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeA novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factorA missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaMutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeXX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcriptionIntellectual disability associated with a homozygous missense mutation in THOC6Mutations in SCO2 are associated with autosomal-dominant high-grade myopiaA high-coverage genome sequence from an archaic Denisovan individualMutations in ROGDI Cause Kohlschütter-Tönz Syndrome
P2860
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P2860
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին 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
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
@ast
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
@en
type
label
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
@ast
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
@en
prefLabel
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
@ast
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
@en
P2093
P2860
P3181
P356
P1476
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
@en
P2093
P2860
P3181
P356
10.1093/NAR/GKQ603
P407
P577
2010-09-01T00:00:00Z