Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes

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Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

Large multiallelic copy number variations in humans

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Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology

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Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children

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Low copy number of the salivary amylase gene predisposes to obesity

(2014) Mario Falchi et al.   NATURE GENETICS

A Genome-Wide Assessment of the Role of Untagged Copy Number Variants in Type 1 Diabetes

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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

(2013) Sonja I Berndt et al.   NATURE GENETICS

Mediterranean diet, overweight and body composition in children from eight European countries: Cross-sectional and prospective results from the IDEFICS study

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Rapid Genome Mapping in Nanochannel Arrays for Highly Complete and Accurate De Novo Sequence Assembly of the Complex Aegilops tauschii Genome

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Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

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Personality traits and eating habits in a large sample of Estonians.

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Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

(2012) Stuart Cantsilieris et al.   HUMAN MUTATION

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Structural diversity and African origin of the 17q21.31 inversion polymorphism

(2012) Karyn Meltz Steinberg et al.   NATURE GENETICS

Structural haplotypes and recent evolution of the human 17q21.31 region

(2012) Linda M Boettger et al.   NATURE GENETICS

Exploring the role of copy number variants in human adaptation

(2012) Rebecca C. Iskow et al.   TRENDS IN GENETICS

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

(2011) Robert E Handsaker et al.   NATURE GENETICS

Modernizing Reference Genome Assemblies

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Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

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

(2010)   NATURE

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

mrsFAST: a cache-oblivious algorithm for short-read mapping

(2010) Faraz Hach et al.   NATURE METHODS

High-resolution human genome structure by single-molecule analysis

(2010) B. Teague et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

(2009) Donald F. Conrad et al.   NATURE

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

A robust statistical method for case-control association testing with copy number variation

(2008) Chris Barnes et al.   NATURE GENETICS

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

(2008) David Melzer et al.   PLoS Genetics