Evidence map›Paper›PMID 37808736›Full record

ArticlebioRxiv : the preprint server for biology2023

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

Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, Elliott Swanson, Jason G Underwood, Yong-Han H Cheng, Jane Ranchalis, Yizi Mao, Elizabeth E Blue, Ulrike Schwarze and 26 more

Registry-linked trialOpen access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 7 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

36 authors at 5 institutions in 1 country.

Mitchell R VollgerUniversity of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
Jonas KorlachPacBio, Menlo Park, CA, USA.
Kiara C EldredUniversity of Washington School of Medicine, Department of Biological Structure, Seattle, WA, USA.
Elliott SwansonUniversity of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
Jason G UnderwoodPacBio, Menlo Park, CA, USA.
Yong-Han H ChengUniversity of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
Jane RanchalisUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Yizi MaoUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Elizabeth E BlueUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Ulrike SchwarzeUniversity of Washington School of Medicine, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.
Katherine M MunsonUniversity of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
Christopher T SaundersPacBio, Menlo Park, CA, USA.
Aaron M WengerPacBio, Menlo Park, CA, USA.
Aimee AllworthUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Sirisak ChanprasertUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Brittney L DuerdenMary Bridge/MultiCare, Tacoma, WA, USA.
Ian GlassUniversity of Washington, Department of Pediatrics, Seattle, WA, USA.
Martha Horike-PyneUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Michelle KimPacBio, Menlo Park, CA, USA.
Kathleen A LeppigGenetic Services, Kaiser Permanente Washington, Seattle, Washington, USA.
Ian J McLaughlinPacBio, Menlo Park, CA, USA.
Jessica OgawaCase Western Reserve University, Cleveland, OH.
Elisabeth A RosenthalUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Sam SheppeardUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Stephanie M ShermanUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Samuel StrohbehnUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Amy L YuenGenetic Services, Kaiser Permanente Washington, Seattle, Washington, USA.
University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN)
Thomas A RehUniversity of Washington School of Medicine, Department of Biological Structure, Seattle, WA, USA.
Peter H ByersUniversity of Washington School of Medicine, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.
Michael J BamshadUniversity of Washington, Department of Pediatrics, Seattle, WA, USA.
Fuki M HisamaUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Gail P JarvikUniversity of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
Yasemin SancakUniversity of Washington School of Medicine, Department of Pharmacology, Seattle, WA, USA.
Katrina M DippleUniversity of Washington, Department of Pediatrics, Seattle, WA, USA.
Andrew B StergachisUniversity of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.
University of Washington · USPacific Biosciences (United States) · USKaiser Permanente · USCase Western Reserve University · USMultiCare Health System · US

Funding

UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
Medical Genetics Training GrantT32GM007454 · NIGMS · UNIVERSITY OF WASHINGTON · PI Gail Pairitz Jarvik, Andrew Ben Stergachis · 1985 to 2026
$6.9M
Pacific Northwest Undiagnosed Diseases Network Clinical SiteU01HG010233 · NHGRI · UNIVERSITY OF WASHINGTON · PI DIPPLE, KATRINA M, JARVIK, GAIL PAIRITZ · 2018 to 2022
$5.4M
Investigating the contribution of non-coding genetic variation to rare disordersDP5OD029630 · OD · UNIVERSITY OF WASHINGTON · PI STERGACHIS, ANDREW BEN · 2020 to 2024
$1.9M
NHGRI NIH HHS U01 HG010233NHGRI NIH HHS UM1 HG006493NIGMS NIH HHS T32 GM007454NIH HHS DP5 OD029630
6 · The paper itself

Abstract

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

Identifiers

PMID37808736
PMCPMC10557686
OpenAlexW4387105336

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.