Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Sanchis-Juan A, Mostovoy Y, Stenton SL, Ganesh VS, Weisburd B, Yenkin A, Kurtas NE, Zhao X, Shin E, Boone PM, Su H, Lee AS, Yadav R, Allan K, Argilli E, Austin-Tse C, Barry BJ, Baxter S, Beggs AH, Bell KM, Blankenmeister B, Bönnemann CG, Brownstein CA, Bujakowska KM, Carbonell E, Cooper ST, Covill LE, DiTroia S, Donkervoort S, Engle EC, Gallacher L, Genetti CA, Gleeson JG, Guan B, Hall S, Hildebrandt F, Hufnagel RB, Jurgens JA, Khorgade A, Lemire G, Liau E, Ma J, Madden JA, Mangilog B, McNulty BM, Messaoud O, Negi S, O'Heir E, O'Leary MC, Osei-Owusu I, Õunap K, Pais L, Pajusalu S, Pham A, Pierce EA, Pierce-Hoffman E, Ravenscroft G, Roscioli T, Sankaran VG, Serrano J, Sherr EH, Shril S, Singer-Berk M, Snow H, Straub V, Tai D, Tan TY, Töpf A, Ullah E, VanNoy G, Violich I, Walker M, White SM, Wojcik MH, Mitchell E, Al'Khafaji AM, Dodge S, Garimella K, Lennon NJ, Gabriel SB, Miga KH, Paten B, Rehm H, O'Donnell-Luria A, Brand H, Talkowski ME