The complete sequence of a human genome
Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addr...
Publications
3 shownA Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are ...
Frequent Co-Authors
Researcher Info
- h-index
- 3
- Publications
- 3
- Citations
- 4,354
- Institution
- Northwell Health
External Links
Identifiers
- ORCID
- 0000-0002-8750-2841
Impact Metrics
h-index
3
h-index: Number of publications with at least h citations each.