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

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Title: Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
Authors: 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
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42396270
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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              Text: 2026 Jun 24
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