Submitted by ja607 on
| Title | Mendelian Gene Discovery: Fast and Furious with No End in Sight. |
| Publication Type | Journal Article |
| Year of Publication | 2019 |
| Authors | Bamshad, MJ, Nickerson, DA, Chong, JX |
| Journal | Am J Hum Genet |
| Volume | 105 |
| Issue | 3 |
| Pagination | 448-455 |
| Date Published | 2019 Sep 05 |
| ISSN | 1537-6605 |
| Abstract | Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding genome function. Approaches based on next-generation sequencing applied at scale have dramatically accelerated gene discovery and transformed genetic medicine. Finding the genetic basis of ∼6,000-13,000 MCs yet to be delineated will require both technical and computational innovation, but will rely to a larger extent on meaningful data sharing. |
| DOI | 10.1016/j.ajhg.2019.07.011 |
| Alternate Journal | Am. J. Hum. Genet. |
| PubMed ID | 31491408 |
| PubMed Central ID | PMC6731362 |
| Grant List | U54 HG006493 / HG / NHGRI NIH HHS / United States UM1 HG006493 / HG / NHGRI NIH HHS / United States |
