An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays

Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals

(2015) Yosuke Kawai et al.   JOURNAL OF HUMAN GENETICS

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

(2014) Nicola Vanni et al.   ANNALS OF NEUROLOGY

Development and evaluation of the first high-throughput SNP array for common carp (Cyprinus carpio)

(2014) Jian Xu et al.   BMC GENOMICS

Development and validation of a high density SNP genotyping array for Atlantic salmon (Salmo salar)

(2014) Ross D Houston et al.   BMC GENOMICS

A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array

(2014) Sandra Unterseer et al.   BMC GENOMICS

Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups

(2014) Haiyi Lou et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The development and characterization of a 57K single nucleotide polymorphism array for rainbow trout

(2014) Y. Palti et al.   Molecular Ecology Resources

Ancient human genomes suggest three ancestral populations for present-day Europeans

(2014) Iosif Lazaridis et al.   NATURE

Identification of functional cooperative mutations of SETD2 in human acute leukemia

(2014) Xiaofan Zhu et al.   NATURE GENETICS

Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe

(2014) Martin Sikora et al.   PLoS Genetics

Precise inference of copy number alterations in tumor samples from SNP arrays

(2013) Gary K. Chen et al.   BIOINFORMATICS

Development of a high density 600K SNP genotyping array for chicken

(2013) Andreas Kranis et al.   BMC GENOMICS

The GenoChip: A New Tool for Genetic Anthropology

(2013) Eran Elhaik et al.   Genome Biology and Evolution

Efficient Moment-Based Inference of Admixture Parameters and Sources of Gene Flow

(2013) Mark Lipson et al.   MOLECULAR BIOLOGY AND EVOLUTION

A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12

(2013) Yongyong Shi et al.   NATURE GENETICS

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations

(2013) Klaus Bønnelykke et al.   NATURE GENETICS

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

(2013) Sohela Shah et al.   NATURE GENETICS

A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23

(2013) Yongzhe Li et al.   NATURE GENETICS

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

(2013) Connie R Bezzina et al.   NATURE GENETICS

The Cancer Genome Atlas Pan-Cancer analysis project

(2013) John N Weinstein et al.   NATURE GENETICS

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Advantage of Using Allele-Specific Copy Numbers When Testing for Association in Regions with Common Copy Number Variants

(2013) Gaëlle Marenne et al.   PLoS One

Genome-wide Association Study Identifies TNFSF15 and POU2AF1 as Susceptibility Loci for Primary Biliary Cirrhosis in the Japanese Population

(2012) Minoru Nakamura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNVD: Text mining-based copy number variation in disease database

(2012) Fujun Qiu et al.   HUMAN MUTATION

The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants

(2012) B J Mowry et al.   MOLECULAR PSYCHIATRY

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

(2012)   NATURE

Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome

(2012) Yongyong Shi et al.   NATURE GENETICS

The Pediatric Cancer Genome Project

(2012) James R Downing et al.   NATURE GENETICS

Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease

(2012) Xiangfeng Lu et al.   NATURE GENETICS

Evolution of genetic and genomic features unique to the human lineage

(2012) Majesta O'Bleness et al.   NATURE REVIEWS GENETICS

NCBI GEO: archive for functional genomics data sets—update

(2012) Tanya Barrett et al.   NUCLEIC ACIDS RESEARCH

The limits of genome-wide methods for pharmacogenomic testing

(2012) Eric R. Gamazon et al.   Pharmacogenetics and Genomics

Current analysis platforms and methods for detecting copy number variation

(2012) Wenli Li et al.   PHYSIOLOGICAL GENOMICS

The Guangzhou Twin Project: An Update

(2012) Yingfeng Zheng et al.   Twin Research and Human Genetics

Human Copy Number Variation and Complex Genetic Disease

(2011) Santhosh Girirajan et al.   Annual Review of Genetics

Copy Number and SNP Arrays in Clinical Diagnostics

(2011) Christian P. Schaaf et al.   Annual Review of Genomics and Human Genetics

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

(2011) Pablo Lapunzina et al.   BIOLOGY OF THE CELL

Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source

(2011) Mads V Hollegaard et al.   BMC GENETICS

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

(2011) Ortrud K Steinlein et al.   BMC Medical Genetics

Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm

(2011) Thomas J. Hoffmann et al.   GENOMICS

Next generation genome-wide association tool: Design and coverage of a high-throughput European-optimized SNP array

(2011) Thomas J. Hoffmann et al.   GENOMICS

Evolution of human BCR–ABL1 lymphoblastic leukaemia-initiating cells

(2011) Faiyaz Notta et al.   NATURE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

A new analysis tool for individual-level allele frequency for genomic studies

(2010) Hsin-Chou Yang et al.   BMC GENOMICS

Regions of homozygosity and their impact on complex diseases and traits

(2010) Chee Seng Ku et al.   HUMAN GENETICS

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

(2010)   NATURE

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

High-resolution DNA analysis of human embryonic stem cell lines reveals culture-induced copy number changes and loss of heterozygosity

(2010) Elisa Närvä et al.   NATURE BIOTECHNOLOGY

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk

(2010) Amy L Sherborne et al.   NATURE GENETICS

Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays

(2010) Andrew E. Dellinger et al.   NUCLEIC ACIDS RESEARCH

Allele-specific copy number analysis of tumors

(2010) P. Van Loo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

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

(2009) Donald F. Conrad et al.   NATURE

Copy number variations and cancer

(2009) Adam Shlien et al.   Genome Medicine

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

(2008) Carl E.G. Bruder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Major copy proportion analysis of tumor samples using SNP arrays

(2008) Cheng Li et al.   BMC BIOINFORMATICS

MPDA: Microarray pooled DNA analyzer

(2008) Hsin-Chou Yang et al.   BMC BIOINFORMATICS

Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios

(2008) Johan Staaf et al.   BMC BIOINFORMATICS

Ploidy status and copy number aberrations in primary glioblastomas defined by integrated analysis of allelic ratios, signal ratios and loss of heterozygosity using 500K SNP Mapping Arrays

(2008) Paul J Gardina et al.   BMC GENOMICS

BCR–ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros

(2008) Charles G. Mullighan et al.   NATURE

Genotype, haplotype and copy-number variation in worldwide human populations

(2008) Mattias Jakobsson et al.   NATURE

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS