cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs (Q45641817)

14 December 2017

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs (English)

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Robin G Walters

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author name string

Julian E Asher

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Julia S El-Sayed Moustafa

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Adam J de Smith

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Alexandra I F Blakemore

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30 May 2010

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541-546

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https://scigraph.springernature.com/pub.10.1038/nmeth.1466

14 December 2017

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cites work

Long-range control of gene expression: emerging mechanisms and disruption in disease

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12 December 2020

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

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12 December 2020

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

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12 December 2020

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

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12 December 2020

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

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12 December 2020

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

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12 December 2020

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

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12 December 2020

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

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12 December 2020

Mapping and sequencing of structural variation from eight human genomes

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12 December 2020

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

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12 December 2020

Efficient calculation of interval scores for DNA copy number data analysis

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12 December 2020

Relative impact of nucleotide and copy number variation on gene expression phenotypes

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12 December 2020

Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

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12 December 2020

Copy number variation at 1q21.1 associated with neuroblastoma

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12 December 2020

A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase

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12 December 2020

Disease association tests by inferring ancestral haplotypes using a hidden markov model.

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12 December 2020

Origins and functional impact of copy number variation in the human genome

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12 December 2020

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

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12 December 2020

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

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12 December 2020

A genome-wide association study identifies novel risk loci for type 2 diabetes

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12 December 2020

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

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12 December 2020

Improved techniques for the identification of pseudogenes

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12 December 2020

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

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12 December 2020

Copy-number variations associated with neuropsychiatric conditions

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12 December 2020

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

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12 December 2020

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

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12 December 2020

Inference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions

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12 December 2020

Accurate whole human genome sequencing using reversible terminator chemistry

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12 December 2020

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

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12 December 2020

Small deletion variants have stable breakpoints commonly associated with alu elements.

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12 December 2020

Identifiers

DOI

10.1038/NMETH.1466

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Dimensions Publication ID

14 December 2017

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