Joshua M Korn
Affiliation: Massachusetts Institute of Technology
- Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVsJoshua M Korn
Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
Nat Genet 40:1253-60. 2008..The Birdsuite software is applied here to data from the Affymetrix SNP 6.0 array. Additionally, we describe a method, implemented in PLINK, to utilize these combined SNP and CNV genotypes for association testing with a phenotype...
- Association between microdeletion and microduplication at 16p11.2 and autismLauren A Weiss
Autism Consortium, Boston, USA
N Engl J Med 358:667-75. 2008..Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role...
- Mapping and sequencing of structural variation from eight human genomesJeffrey M Kidd
Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA
Nature 453:56-64. 2008..These data provide the first high-resolution sequence map of human structural variation--a standard for genotyping platforms and a prelude to future individual genome sequencing projects...
- Integrated detection and population-genetic analysis of SNPs and copy number variationSteven A McCarroll
Program in Medical and Population Genetics and Genetic Analysis Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Nat Genet 40:1166-74. 2008..Most common, diallelic CNPs were in strong linkage disequilibrium with SNPs, and most low-frequency CNVs segregated on specific SNP haplotypes...
- Integrating common and rare genetic variation in diverse human populationsDavid M Altshuler
Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02138, USA
Nature 467:52-8. 2010....