ParseCNV integrative copy number variation association software with quality tracking.
about
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence dataComparative Analysis of CNV Calling Algorithms: Literature Survey and a Case Study Using Bovine High-Density SNP DataEndometriosis is associated with rare copy number variants.Molecular characterization of an intact p53 pathway subtype in high-grade serous ovarian cancer.Genome wide analysis reveals single nucleotide polymorphisms associated with fatness and putative novel copy number variants in three pig breeds.A Genome Wide Study of Copy Number Variation Associated with Nasopharyngeal Carcinoma in Malaysian Chinese Identifies CNVs at 11q14.3 and 6p21.3 as Candidate Loci.CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan SubpopulationsGenome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits.Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.Etiology of autism spectrum disorder: a genomics perspective.New quality measure for SNP array based CNV detection.Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.Copy number variation analysis reveals additional variants contributing to endometriosis development.CoNVaQ: a web tool for copy number variation-based association studies.Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome
P2860
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P2860
ParseCNV integrative copy number variation association software with quality tracking.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artikel ilmiah
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name
ParseCNV integrative copy number variation association software with quality tracking.
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label
ParseCNV integrative copy number variation association software with quality tracking.
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prefLabel
ParseCNV integrative copy number variation association software with quality tracking.
@en
P2860
P356
P1476
ParseCNV integrative copy number variation association software with quality tracking
@en
P2093
Hakon Hakonarson
P2860
P356
10.1093/NAR/GKS1346
P407
P577
2013-01-04T00:00:00Z