A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
about
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectivesDYX1C1 is required for axonemal dynein assembly and ciliary motilityA missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaCombined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.Explorations to improve the completeness of exome sequencingExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementUse of targeted exome sequencing as a diagnostic tool for Familial HypercholesterolaemiaMutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisAMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosisMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyLarge Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric PopulationShort read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data.CANOES: detecting rare copy number variants from whole exome sequencing data.Identification of copy number variants from exome sequence data.Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflowEvaluation of somatic copy number estimation tools for whole-exome sequencing data.A Sparse Model Based Detection of Copy Number Variations From Exome Sequencing DataCLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data.VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing dataRapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseqDetection of genomic rearrangements from targeted resequencing data in Parkinson's disease patientsWhole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defectsLate-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridizationA recurrent mutation in bone morphogenetic proteins-2-inducible kinase gene is associated with developmental dysplasia of the hip.An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.Mutations in TJP2 cause progressive cholestatic liver disease.Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutationsNovel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.Copy number variation analysis based on AluScan sequencesIntegration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk geneAn evaluation of copy number variation detection tools from whole-exome sequencing data.Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?
P2860
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P2860
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A robust model for read count ...... or copy number variant calling
@ast
A robust model for read count ...... or copy number variant calling
@en
type
label
A robust model for read count ...... or copy number variant calling
@ast
A robust model for read count ...... or copy number variant calling
@en
prefLabel
A robust model for read count ...... or copy number variant calling
@ast
A robust model for read count ...... or copy number variant calling
@en
P2093
P2860
P50
P356
P1433
P1476
A robust model for read count ...... or copy number variant calling
@en
P2093
Dinakantha Kumararatne
Emma Stebbings
James Curtis
Michael Epstein
Rainer Doffinger
Sergey Nejentsev
Sofia Grigoriadou
Sophie Hambleton
P2860
P304
P356
10.1093/BIOINFORMATICS/BTS526
P407
P577
2012-08-31T00:00:00Z