Evidence map›Paper›PMID 38405995›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais and 29 more

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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.

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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, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

39 authors at 18 institutions in 13 countries.

Ben WeisburdProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-9898-9109
Rakshya SharmaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Villem PataDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Tiia ReimandDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Vijay S GaneshProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-8709-9351
Christina Austin-TseProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ikeoluwa Osei-OwusuProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Emily O'HeirProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Melanie O'LearyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lynn PaisProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Seth A StafkiGreg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.
Audrey L DaughertyGreg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.
Chiara FollandCentre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.ORCID 0000-0002-6346-4828
Stojan PerićUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia.ORCID 0000-0002-2979-556X
Nagia FahmyNeuromuscular Center, Ain Shams University, Cairo, Egypt.ORCID 0000-0001-8670-0419
Bjarne UddTampere Neuromuscular Center and Folkhalsan Research Center, Helsinki, Finland.ORCID 0000-0002-1101-9730
Magda HorakovaDepartment of Neurology, Neuromuscular Center ERN, University Hospital Brno, Brno, Czech Republic.ORCID 0000-0003-3317-2661
Anna ŁusakowskaDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland.ORCID 0000-0003-1909-9963
Rajanna ManojNational Institute of Mental Health and Neuro Sciences, Bengaluru, India.
Atchayaram NaliniNational Institute of Mental Health and Neuro Sciences, Bengaluru, India.ORCID 0000-0001-9791-3639
Veronika KarcagiIstenhegyi Genetic Diagnostic Centre, Molecular Genetic Laboratory, Budapest, Hungary.ORCID 0000-0001-5691-2920
Kiran PolavarapuChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.ORCID 0000-0002-8879-6001
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.ORCID 0000-0003-2324-8001
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.ORCID 0000-0002-9841-170X
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.ORCID 0000-0002-5930-2324
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Göknur HaliloğluNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Ozlem HergunerÇukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Adana, Turkey.
Peter B KangGreg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.ORCID 0000-0002-4270-7325
Gianina RavenscroftCentre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
Nigel LaingCentre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
Hamish S ScottCentre for Cancer Biology, An SA Pathology & UniSA Alliance, Adelaide, SA, Australia.ORCID 0000-0002-5813-631X
Ana TöpfJohn Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID 0000-0001-9046-3540
Sander PajusaluDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Katrin ÕunapDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Grace TiaoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Heidi L RehmProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-6025-0015
Anne O'Donnell-LuriaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-6418-9592
Broad Institute · USTartu University Hospital · EENational Institute of Neurological Disorders and Stroke · USThe University of Western Australia · AUUniversity of Minnesota · USNational Institute of Mental Health and Neurosciences · INNewcastle upon Tyne Hospitals NHS Foundation Trust · GBAin Shams University · EGChildren's Hospital of Eastern Ontario · CACukurova University · TRFolkhälsans Forskningscentrum · FIGenetic Resources Center · JPMasaryk University · CZMedical University of Warsaw · PLSouth Australia Pathology · AUUniversity of Belgrade · RSUniversity of Cambridge · GBUniversity of Ottawa · CA

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
University of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
Partners Healthcare Training Program in Precision and Genomic MedicineT32HG010464 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI HEIDI L REHM, JORDAN W SMOLLER · 2019 to 2026
$3.1M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
NHGRI NIH HHS R01 HG009141NHGRI NIH HHS T32 HG010464NHGRI NIH HHS U01 HG011755NHGRI NIH HHS U24 HG011746NHGRI NIH HHS UM1 HG008900Wellcome Trust
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is a genetic disorder that causes progressive degeneration of lower motor neurons and the subsequent loss of muscle function throughout the body. It is the second most common recessive disorder in individuals of European descent and is present in all populations. Accurate tools exist for diagnosing SMA from genome sequencing data. However, there are no publicly available tools for GRCh38-aligned data from panel or exome sequencing assays which continue to be used as first line tests for neuromuscular disorders. This deficiency creates a critical gap in our ability to diagnose SMA in large existing rare disease cohorts, as well as newly sequenced exome and panel datasets. We therefore developed and extensively validated a new tool - SMA Finder - that can diagnose SMA not only in genome, but also exome and panel sequencing samples aligned to GRCh37, GRCh38, or T2T-CHM13. It works by evaluating aligned reads that overlap the c.840 position of

Identifiers

PMID38405995
PMCPMC10889006
OpenAlexW4391772262

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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.