The Diploid Genome Sequence of an Individual Human
Presented here is a genome sequence of an individual human. It was produced from approximately 32 million random DNA fragments, sequenced by Sanger dideoxy technology and assemb...
Publications
3 shownGenome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common di...
Origins and functional impact of copy number variation in the human genome
Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained. Here we use tiling...
Frequent Co-Authors
Researcher Info
- h-index
- 3
- Publications
- 3
- Citations
- 4,605
- Institution
- Hospital for Sick Children
External Links
Identifiers
- ORCID
- 0000-0003-2355-2919
Impact Metrics
h-index
3
h-index: Number of publications with at least h citations each.