Oz-Levi, Danit; Olender, Tsviya; Bar-Joseph, Ifat; Zhu, Yiwen; Marek-Yagel, Dina; Barozzi, Iros; Osterwalder, Marco; Alkelai, Anna; Ruzzo, Elizabeth K; Han, Yujun; Vos, Erica S M; Reznik-Wolf, Haike; Hartman, Corina; Shamir, Raanan; Weiss, Batia; Shapiro, Rivka; Pode-Shakked, Ben; Tatarskyy, Pavlo; Milgrom, Roni; Schvimer, Michael; Barshack, Iris; Imai, Denise M; Coleman-Derr, Devin; Dickel, Diane E; Nord, Alex S; Afzal, Veena; van Bueren, Kelly Lammerts; Barnes, Ralston M; Black, Brian L; Mayhew, Christopher N; Kuhar, Matthew F; Pitstick, Amy; Tekman, Mehmet; Stanescu, Horia C; Wells, James M; Kleta, Robert; de Laat, Wouter; Goldstein, David B; Pras, Elon; Visel, Axel; Lancet, Doron; Anikster, Yair; Pennacchio, Len A
(Nature Research, 2019-07)
Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show that ...