ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

por Sharo, Andrew G., Zou, Yangyun, Adhikari, Aashish N., Brenner, Steven E.
Publicado 2023

The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

por Woerner, Audrey C., Gallagher, Renata C., Vockley, Jerry, Adhikari, Aashish N.
Publicado 2021

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace...

por Adhikari, Aashish N., Currier, Robert J., Tang, Hao, Turgeon, Coleman T., Nussbaum, Robert L., Srinivasan, Rajgopal, Sunderam, Uma, Kwok, Pui-Yan, Brenner, Steven E., Gavrilov, Dimitar, Puck, Jennifer M., Gallagher, Renata
Publicado 2020

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

por McInnes, Gregory, Sharo, Andrew G., Koleske, Megan L., Brown, Julia E.H., Norstad, Matthew, Adhikari, Aashish N., Wang, Sheng, Brenner, Steven E., Halpern, Jodi, Koenig, Barbara A., Magnus, David C., Gallagher, Renata C., Giacomini, Kathleen M., Altman, Russ B.
Publicado 2021