Modeling read counts for CNV detection in exome sequencing data.
about
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesA novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersNovel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 FamilyA robust model for read count data in exome sequencing experiments and implications for copy number variant callingCEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data.Identification of novel point mutations in splicing sites integrating whole-exome and RNA-seq data in myeloproliferative diseasesCANOES: detecting rare copy number variants from whole exome sequencing data.Identification of copy number variants from exome sequence data.Inferring copy number and genotype in tumour exome data.Evaluation of somatic copy number estimation tools for whole-exome sequencing data.A Sparse Model Based Detection of Copy Number Variations From Exome Sequencing DataVisCap: 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 dataDetection of genomic rearrangements from targeted resequencing data in Parkinson's disease patientsCoNVEX: copy number variation estimation in exome sequencing data using HMMDetection of internal exon deletion with exon Del.Allele-specific copy-number discovery from whole-genome and whole-exome sequencingCNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depthAssessing the reproducibility of exome copy number variations predictions.Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture.Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.Comparative study of exome copy number variation estimation tools using array comparative genomic hybridization as control.Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia.Ximmer: A system for improving accuracy and consistency of CNV calling from exome dataDetecting Copy Number Variation via Next Generation Technology
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P2860
Modeling read counts for CNV detection in exome sequencing data.
description
2011 nî lūn-bûn
@nan
2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի նոյեմբերին 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
Modeling read counts for CNV detection in exome sequencing data.
@ast
Modeling read counts for CNV detection in exome sequencing data.
@en
type
label
Modeling read counts for CNV detection in exome sequencing data.
@ast
Modeling read counts for CNV detection in exome sequencing data.
@en
prefLabel
Modeling read counts for CNV detection in exome sequencing data.
@ast
Modeling read counts for CNV detection in exome sequencing data.
@en
P2860
P50
P356
P1476
Modeling read counts for CNV detection in exome sequencing data.
@en
P2093
Alena Myšičková
Ruping Sun
P2860
P304
P356
10.2202/1544-6115.1732
P577
2011-11-08T00:00:00Z