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Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions.

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Title: Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions.
Authors: Mack T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Lin J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Ren L; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Sohn MH; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Minkina A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Kwon Y; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Yoo D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Sui Y; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Mastrorosa FK; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Sorensen M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Ayllon M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Sun KA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Koundiya N; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Ou J; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Noyes MD; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Sedeño-Cortés A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Leonardson A; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Jacques CN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Oliviera C; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Frazar CD; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Zakarian C; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Jensen DM; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Swanson EG; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Ryke E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Kolar JT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Ranchalis J; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Sutherlin L; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA., Loy K; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Pham MM; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Huang MF; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Au NY; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Nielsen PM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., McGee SR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Neph S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Bohaczuk S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Shaffer T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Freeman V; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Mao Y; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Stillman BC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Richardson M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Smith JD; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Weiss JM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Parmalee NL; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Wei CL; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA., Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Stergachis AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Brotman Bay Institute for Precision Medicine, Seattle, WA, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Brotman Bay Institute for Precision Medicine, Seattle, WA, USA.
Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Feb 20. Date of Electronic Publication: 2026 Feb 20.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 41756841
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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  Data: Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions.
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