PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data - Wikidata - wikimedia - TriplyDB

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

http://www.wikidata.org/entity/Q29614933

about

Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee Current challenges in the bioinformatics of single cell genomics.Novel association strategy with copy number variation for identifying new risk Loci of human diseases Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy Functional impact of global rare copy number variation in autism spectrum disorders Common genetic variants on 5p14.1 associate with autism spectrum disorders CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1 Using ERDS to infer copy-number variants in high-coverage genomes A genome-wide study reveals copy number variants exclusive to childhood obesity cases A genome-wide association study of carotid atherosclerosis in HIV-infected men Autism genome-wide copy number variation reveals ubiquitin and neuronal genes Strong synaptic transmission impact by copy number variations in schizophrenia.Copy number variation at 1q21.1 associated with neuroblastoma Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries Using familial information for variant filtering in high-throughput sequencing studies Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays Modified screening and ranking algorithm for copy number variation detection.Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus)Copy number variation in the horse genome Bovine exome sequence analysis and targeted SNP genotyping of recessive fertility defects BH1, HH2, and HH3 reveal a putative causative mutation in SMC2 for HH3 High density LD-based structural variations analysis in cattle genome Investigating the effects of copy number variants on reading and language performance.Genome-Wide Detection of CNVs and Their Association with Meat Tenderness in Nelore Cattle On the association of common and rare genetic variation influencing body mass index: a combined SNP and CNV analysis A Review of Genome-Wide Association Studies of Stimulant and Opioid Use Disorders Complex and multi-allelic copy number variation in human disease A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia Amplification and high-level expression of heat shock protein 90 marks aggressive phenotypes of human epidermal growth factor receptor 2 negative breast cancer Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications Integration of transcript expression, copy number and LOH analysis of infiltrating ductal carcinoma of the breast

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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

http://www.wikidata.org/entity/Q29614933

description

2007 nî lūn-bûn

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2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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PennCNV: an integrated hidden ...... ole-genome SNP genotyping data

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PennCNV: an integrated hidden ...... ole-genome SNP genotyping data

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Genome Research

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PennCNV: an integrated hidden ...... ole-genome SNP genotyping data

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Bucan M

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Glessner J

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Grant SF

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Hadley D

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Hakonarson H

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Liu R

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Wang K

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P2860

Structural variation in the human genome

Fine-scale structural variation of the human genome

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

Global variation in copy number in the human genome

BLAT--the BLAST-like alignment tool

Bias of selection on human copy-number variants.

Detection of large-scale variation in the human genome

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

Large-scale copy number polymorphism in the human genome

Copy-number variation and association studies of human disease

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10.1101/GR.6861907

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17

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17921354

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2045149

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