Evidence map›Paper›PMID 37293051›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.

Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara A Koenig, Pui-Yan Kwok and 3 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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
–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

13 authors at 1 institution in 1 country.

Yusuph MavuraInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Nuriye Sahin-HodoglugilInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Ugur HodoglugilInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Mark KvaleInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Pierre-Marie MartinInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Jessica Van ZiffleInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
W Patrick DevineInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Sara L AckermanInstitute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA.
Barbara A KoenigInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Pui-Yan KwokInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Mary E NortonInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Anne SlavotinekInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
Neil RischInstitute for Human Genetics, University of California San Francisco, San Francisco, CA.
University of California, San Francisco · US

Funding

Sharing Aggregate Genomics Research Findings with Diverse Participants: A Pilot Study of an Innovative Design StrategyU01HG009599 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2017 to 2021
$16.3M
NHGRI NIH HHS U01 HG009599
6 · The paper itself

Abstract

Purpose: It has been hypothesized that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental genetic ancestry in a racially/ethnically diverse pediatric and prenatal clinical cohort. Methods: Cases (N=845) with suspected genetic disorders underwent ES for diagnosis. Continental genetic ancestry proportions were estimated from the ES data. We compared the distribution of genetic ancestries in positive, negative, and inconclusive cases by Kolmogorov Smirnov tests and linear associations of ancestry with DY by Cochran-Armitage trend tests. Results: We observed no reduction in overall DY associated with any continental genetic ancestry (Africa, America, East Asia, Europe, Middle East, South Asia). However, we observed a relative increase in proportion of autosomal recessive homozygous inheritance versus other inheritance patterns associated with Middle Eastern and South Asian ancestry, due to consanguinity. Conclusions: In this empirical study of ES for undiagnosed pediatric and prenatal genetic conditions, genetic ancestry was not associated with the likelihood of a positive diagnosis, supporting the ethical and equitable use of ES in diagnosis of previously undiagnosed but potentially Mendelian disorders across all ancestral populations.

Identifiers

PMID37293051
PMCPMC10246153
OpenAlexW4377967597

What OpenQuestion holds

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LicenceCC BY-ND
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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.