Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups

The emerging role of structural variations in common disorders: initial findings and discovery challenges

(2009) L. Armengol et al.   CYTOGENETIC AND GENOME RESEARCH

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Racial Differences in the Prevalence of Age-Related Macular Degeneration

(2008) Susan B. Bressler   ARCHIVES OF OPHTHALMOLOGY

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)

(2008) Juan R Gonzalez et al.   BMC BIOINFORMATICS

ProSeeK: A web server for MLPA probe design

(2008) Lorena Pantano et al.   BMC GENOMICS

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

(2008) Mattias Jakobsson et al.   NATURE

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

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

(2008) Gregory M Cooper et al.   NATURE GENETICS

Natural selection has driven population differentiation in modern humans

(2008) Luis B Barreiro et al.   NATURE GENETICS

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

(2008) Steven A McCarroll et al.   NATURE GENETICS

A Haptoglobin-Hemoglobin Receptor Conveys Innate Immunity to Trypanosoma brucei in Humans

(2008) B. Vanhollebeke et al.   SCIENCE

The functional impact of structural variation in humans

(2008) Matthew E. Hurles et al.   TRENDS IN GENETICS

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

(2007) Teresita Díaz de Ståhl et al.   HUMAN MUTATION