Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

Shloka Negi(University of California, Santa Cruz), Sarah L. Stenton(Broad Institute), Seth Berger(Children's National), Paolo Canigiula(Children's National), Brandy McNulty(University of California, Santa Cruz), Ivo Violich(University of California, Santa Cruz), Joshua Gardner(Bangor University), Todd Hillaker(University of California, Santa Cruz), Sara M. O’Rourke(University of California, Santa Cruz), Melanie O’Leary(Broad Institute), Elizabeth Carbonell(Broad Institute), Christina Austin‐Tse(Broad Institute), Gabrielle Lemire(Broad Institute), Jillian Serrano(Broad Institute), Brian Mangilog(Broad Institute), Grace E. VanNoy(Broad Institute), Mikhail Kolmogorov(National Institutes of Health), Éric Vilain(University of California, Irvine), Anne O’Donnell‐Luria(Broad Institute), Emmanuèle C. Délot(University of California, Irvine), Karen H. Miga(University of California, Santa Cruz), Jean Monlong(Université Toulouse III - Paul Sabatier), Benedict Paten(University of California, Santa Cruz)
The American Journal of Human Genetics
January 24, 2025
10.1016/j.ajhg.2025.01.002
Cited by 38Open Access
Full Text

Abstract

Related Papers

No related papers found

Powered by citation graph analysis