Evidence map›Paper›PMID 36983702›Full record

ArticleJournal of personalized medicine2023

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.

Laura Rufibach, Kiera Berger, Samya Chakravorty, Sarah Emmons, Laurie Long, Greg Gibson, Madhuri Hegde

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of personalized medicine, 2023. 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
0.2field-weighted citation impact, top 43% of its field
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, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Laura RufibachJain Foundation, Inc., Seattle, WA 98115, USA.ORCID 0000-0001-8208-0574
Kiera BergerCenter for Integrative Genomics, Georgia Institute of Technology, Atlanta, GA 30332, USA.
Samya ChakravortyDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0002-0236-3281
Sarah EmmonsJain Foundation, Inc., Seattle, WA 98115, USA.
Laurie LongJain Foundation, Inc., Seattle, WA 98115, USA.
Greg GibsonCenter for Integrative Genomics, Georgia Institute of Technology, Atlanta, GA 30332, USA.ORCID 0000-0002-5352-5877
Madhuri HegdeDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Jain Foundation · USEmory University · USGeorgia Institute of Technology · US

Funding

Jain Foundation NAMuscular Dystrophy Association MDA578400
6 · The paper itself

Abstract

For inherited diseases, obtaining a definitive diagnosis is critical for proper disease management, family planning, and participation in clinical trials. This can be challenging for dysferlinopathy due to the significant clinical overlap between the 30+ subtypes of limb-girdle muscular dystrophy (LGMD) and the large number of variants of unknown significance (VUSs) that are identified in the dysferlin gene,

Indexed as

ACMG guidelinesdiagnostic yielddysferlinopathygenetic diagnosisLGMDLGMD2BLGMDR2Miyoshi myopathyRNA-Seqvariants of unknown significance

Identifiers

PMID36983702
PMCPMC10056012
OpenAlexW4324149524

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.