Evidence map›Paper›PMID 36798371›Full record

ArticlebioRxiv : the preprint server for biology2023

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.

Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Adriana Sedeño Cortés, Jane Ranchalis, Aimee Allworth, Austin E Bland, Sirisak Chanprasert 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, 0 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 4 institutions in 1 country.

Andrew B StergachisUniversity 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.
Madelyn A GillentineSeattle Children's Hospital, Department of Laboratories, Seattle, WA, USA.
Lee-Kai WangInstitute for Precision Health, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.
Ulrike SchwarzeUniversity of Washington School of Medicine, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.
Adriana Sedeño CortésUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Jane RanchalisUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Aimee AllworthUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Austin E BlandUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Sirisak ChanprasertUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Jingheng ChenUniversity of Washington, Institute of Public Health Genetics, Seattle, WA, USA.
Daniel DohertyBrotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Andrew B FoltaUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Ian GlassBrotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Martha Horike-PyneUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Alden Y HuangInstitute for Precision Health, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.
Alyna T KhanUniversity of Washington, Institute of Public Health Genetics, Seattle, WA, USA.
Kathleen A LeppigGroup Health Cooperative, Kaiser Permanente Washington, Seattle, WA, USA.
Danny E MillerBrotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Ghayda MirzaaBrotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Azma ParhinUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Wendy RaskindUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
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.
Samuel StrohbehnUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Virginia P SybertUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Thao T TranUniversity of Washington School of Medicine, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.
Mark WenerUniversity of Washington School of Medicine, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.
University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN)
Peter H ByersUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Stanley F NelsonInstitute for Precision Health, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.
Michael J BamshadBrotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Katrina M DippleBrotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Gail P JarvikUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
Suzanne HoppinsUniversity of Washington School of Medicine, Department of Biochemistry, Seattle, WA, USA.
Fuki M HisamaUniversity of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.
University of Washington · USUniversity of California, Los Angeles · USGroup Health Cooperative · USSeattle Children's Hospital · US

Funding

UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
UCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1M
Pacific Northwest Undiagnosed Diseases Network Clinical SiteU01HG010233 · NHGRI · UNIVERSITY OF WASHINGTON · PI DIPPLE, KATRINA M, JARVIK, GAIL PAIRITZ · 2018 to 2022
$5.4M
Determining the mechanism of mitochondrial outer membrane fusionR01GM118509 · NIGMS · UNIVERSITY OF WASHINGTON · PI HOPPINS, SUZANNE C · 2017 to 2025
$3.3M
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 HG007703NHGRI NIH HHS U01 HG010233NHGRI NIH HHS UM1 HG006493NIGMS NIH HHS R01 GM118509NIH HHS DP5 OD029630
6 · The paper itself

Abstract

Objectives: Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript sequencing is largely unexplored. Methods: We applied short-read and full-length isoform cDNA sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis. Results: We identified an intronic homozygous Discussion: This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.

Identifiers

PMID36798371
PMCPMC9934537
OpenAlexW4319602755

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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.