Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Rodrigues EDS, Griffith S, Martin R, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Sheffer A, Chong JX, Einhorn Y, Cupak M, Sobreira N.
Rodrigues EDS, et al.
Hum Mutat. 2022 Jun;43(6):782-790. doi: 10.1002/humu.24359. Epub 2022 Mar 21.
Hum Mutat. 2022.
PMID: 35191117
Free PMC article.