Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.

Journal

bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
27 Sep 2023
Historique:
pubmed: 9 10 2023
medline: 9 10 2023
entrez: 9 10 2023
Statut: epublish

Résumé

Resolving the molecular basis of a Mendelian condition (MC) remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome, and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion, and structural variant calling and diploid

Identifiants

DOI: 10.1101/2023.09.26.559521 PMID: 37808736 PMC: PMC10557686
pubmed: 37808736
doi: 10.1101/2023.09.26.559521
pmc: PMC10557686
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NIH HHS
ID : DP5 OD029630
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007454
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010233
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006493
Pays : United States

Déclaration de conflit d'intérêts

Conflicts J.K., J.G.U., C.T.S., A.M.W., M.K. and I.J.M. are full-time employees at PacBio, a company developing single-molecule sequencing technologies. A.B.S. is a co-inventor on a patent relating to the Fiber-seq method (US17/995,058).

Auteurs

Mitchell R Vollger (MR)

University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Jonas Korlach (J)

PacBio, Menlo Park, CA, USA.

Kiara C Eldred (KC)

University of Washington School of Medicine, Department of Biological Structure, Seattle, WA, USA.

Elliott Swanson (E)

University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.

Jason G Underwood (JG)

PacBio, Menlo Park, CA, USA.

Yong-Han H Cheng (YH)

University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.

Jane Ranchalis (J)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Yizi Mao (Y)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Elizabeth E Blue (EE)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Institute for Public Health Genetics, University of Washington, Seattle, WA, USA.
Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

Ulrike Schwarze (U)

University of Washington School of Medicine, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.

Katherine M Munson (KM)

University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.

Christopher T Saunders (CT)

PacBio, Menlo Park, CA, USA.

Aaron M Wenger (AM)

PacBio, Menlo Park, CA, USA.

Aimee Allworth (A)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Sirisak Chanprasert (S)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Brittney L Duerden (BL)

Mary Bridge/MultiCare, Tacoma, WA, USA.

Ian Glass (I)

University of Washington, Department of Pediatrics, Seattle, WA, USA.
Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

Martha Horike-Pyne (M)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Michelle Kim (M)

PacBio, Menlo Park, CA, USA.

Kathleen A Leppig (KA)

Genetic Services, Kaiser Permanente Washington, Seattle, Washington, USA.

Ian J McLaughlin (IJ)

PacBio, Menlo Park, CA, USA.

Jessica Ogawa (J)

Case Western Reserve University, Cleveland, OH.

Elisabeth A Rosenthal (EA)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Sam Sheppeard (S)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Stephanie M Sherman (SM)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Samuel Strohbehn (S)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Amy L Yuen (AL)

Genetic Services, Kaiser Permanente Washington, Seattle, Washington, USA.

Thomas A Reh (TA)

University of Washington School of Medicine, Department of Biological Structure, Seattle, WA, USA.

Peter H Byers (PH)

University of Washington School of Medicine, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.
University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.

Michael J Bamshad (MJ)

University of Washington, Department of Pediatrics, Seattle, WA, USA.
Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

Fuki M Hisama (FM)

University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

Gail P Jarvik (GP)

University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

Yasemin Sancak (Y)

University of Washington School of Medicine, Department of Pharmacology, Seattle, WA, USA.

Katrina M Dipple (KM)

University of Washington, Department of Pediatrics, Seattle, WA, USA.
Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

Andrew B Stergachis (AB)

University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

Classifications MeSH