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Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

http://www.wikidata.org/entity/Q36358463

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GROM-RD: resolving genomic biases to improve read depth detection of copy number variants Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives Achieving high-sensitivity for clinical applications using augmented exome sequencing Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction Novel bioinformatic developments for exome sequencing Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort Computational characterisation of cancer molecular profiles derived using next generation sequencing Detection of Genomic Structural Variants from Next-Generation Sequencing Data Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders Connectivity Homology Enables Inter-Species Network Models of Synthetic Lethality Explorations to improve the completeness of exome sequencing Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.Clinical analysis and interpretation of cancer genome data Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches.Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.CANOES: detecting rare copy number variants from whole exome sequencing data.Identification of copy number variants from exome sequence data.cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data Inferring copy number and genotype in tumour exome data.Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.CopywriteR: DNA copy number detection from off-target sequence data Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing 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 Data CLAMMS: 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 data CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2 CloneCNA: detecting subclonal somatic copy number alterations in heterogeneous tumor samples from whole-exome sequencing data

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Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

http://www.wikidata.org/entity/Q36358463

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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Discovery and statistical geno ...... m whole-exome sequencing depth

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Discovery and statistical geno ...... m whole-exome sequencing depth

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Discovery and statistical geno ...... m whole-exome sequencing depth

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Discovery and statistical geno ...... m whole-exome sequencing depth

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Discovery and statistical geno ...... m whole-exome sequencing depth

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Discovery and statistical geno ...... m whole-exome sequencing depth

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J.AJHG.2012.08.005

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American Journal of Human Genetics

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Discovery and statistical geno ...... m whole-exome sequencing depth

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Eric Banks

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Kimberly Chambert

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Michael J Owen

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Pamela Sklar

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Patrick F Sullivan

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Robert E Handsaker

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Shaun M Purcell

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Steven A McCarroll

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Rare chromosomal deletions and duplications increase risk of schizophrenia

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Mapping copy number variation by population-scale genome sequencing

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Accurate whole human genome sequencing using reversible terminator chemistry

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Fast and accurate short read alignment with Burrows-Wheeler transform

Large recurrent microdeletions associated with schizophrenia

PLINK: a tool set for whole-genome association and population-based linkage analyses

Segmental duplications and copy-number variation in the human genome.

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10.1016/J.AJHG.2012.08.005

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Michael C O'Donovan

Douglas M. Ruderfer

Jennifer L. Moran

Menachem Fromer

Christina M. Hultman

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2012-10-01T00:00:00Z

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23040492

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