Evidence map›Paper›PMID 38585854›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

Susan M Hiatt, James M J Lawlor, Lori H Handley, Donald R Latner, Zachary T Bonnstetter, Candice R Finnila, Michelle L Thompson, Lori Beth Boston, Melissa Williams, Ivan Rodriguez Nunez and 9 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Susan M HiattHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
James M J LawlorHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Lori H HandleyHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Donald R LatnerHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Zachary T BonnstetterHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Candice R FinnilaHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Michelle L ThompsonHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Lori Beth BostonHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Melissa WilliamsHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Ivan Rodriguez NunezHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Jerry JenkinsHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Whitley V KelleyHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
E Martina BebinDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL, 35924, USA.
Michael A LopezDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL, 35924, USA.
Anna C E HurstDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35924, USA.
Bruce R KorfDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35924, USA.
Jeremy SchmutzHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Jane GrimwoodHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.

Funding

South-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9M
Genomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5M
NHGRI NIH HHS U01 HG007301NHGRI NIH HHS UM1 HG007301
6 · The paper itself

Abstract

Variant detection from long-read genome sequencing (lrGS) has proven to be considerably more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can increase molecular diagnostic yield for rare disease is not yet precisely characterized. We performed lrGS using Pacific Biosciences "HiFi" technology on 96 short-read-negative probands with rare disease that were suspected to be genetic. We generated hg38-aligned variants and

Indexed as

Clinical sequencingLong read sequencingLRS Special Issueneurodevelopmental disorderrepeat expansionstructural variation

Identifiers

PMID38585854
PMCPMC10996728

What OpenQuestion holds

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Registered trials

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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.