Publications
View AllHuman Genome Sequencing in Health and Disease
Following the “finished,” euchromatic, haploid human reference genome sequence, the rapid development of novel, faster, and cheaper sequencing technologies is making possible th...
The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions
Abstract Next generation exome sequencing (ES) and whole genome sequencing (WGS) are new powerful tools for discovering the gene(s) that underlie Mendelian disorders. To acceler...
Institution Info
- Type
- healthcare
- Country
- US
- Publications
- 5
- Citations
- 6,680
External Links
Identifiers
- ROR
- https://ror.org/05cz92x43