Evidence map›Paper›PMID 37236975›Full record

ArticleNPJ genomic medicine2023

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen and 28 more

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing 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

32 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium.medRxiv : the preprint server for health sciences · 2026
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Genome sequencing reveals the impact of pseudoexons in rare genetic disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Article
  20. Patient understanding of prenatal exome sequencing.American journal of obstetrics & gynecology MFM · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

38 authors.

Anne SlavotinekDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, USA. anne.slavotinek@cchmc.org.
Shannon RegoDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Nuriye Sahin-HodoglugilInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Mark KvaleInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Billie LianoglouDepartment of Surgery, University of California, San Francisco, San Francisco, CA, USA.
Tiffany YipDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Hannah HobanDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Simon OutramInstitute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.
Beatrice AnguianoInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Flavia ChenInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Jeremy MichelsonInstitute of Human Nutrition, Columbia University Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-8564-0215
Roberta M CilioDivision of Pediatric Neurology, Department of Pediatrics, University of Louvain, Brussels, Belgium.
Cynthia CurryGenetic Medicine, University of California, San Francisco, Fresno, CA, USA.
Renata C GallagherDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-1611-0354
Marisa GardnerDepartment of Neurology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Rachel KupermanDepartment of Neurology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Bryce MendelsohnDivision of Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
Elliott SherrDivision of Child Neurology, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Joseph ShiehDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-0746-6084
Jonathan StroberDivision of Child Neurology, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Allison TamDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0001-6940-9240
Jessica TenneyDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
William WeissDivision of Child Neurology, Zuckerberg San Francisco General Hospital, San Francisco, San Francisco, CA, USA.
Amy WhittleDivision of Pediatrics, Zuckerberg San Francisco General Hospital, San Francisco, San Francisco, CA, USA.
Garrett ChinInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Amanda FaubelDepartment of Surgery, University of California, San Francisco, San Francisco, CA, USA.
Hannah PrasadInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Yusuph MavuraInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Jessica Van ZiffleDepartment of Pathology, University of California San Francisco, San Francisco, CA, USA.
W Patrick DevineDepartment of Pathology, University of California San Francisco, San Francisco, CA, USA.
Ugur HodoglugilGenomic Medicine Laboratory, University of California San Francisco, San Francisco, CA, USA.
Pierre-Marie MartinInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Teresa N SparksInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-8593-2186
Barbara KoenigInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Sara AckermanInstitute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.
Neil RischInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Pui-Yan KwokCardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Mary E NortonInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.

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
WOMEN'S REPRODUCTIVE HEALTH RESEARCH CENTERK12HD001262 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Andrea Vashti Jackson · 1998 to 2026
$9.3M
NHGRI NIH HHS U01 HG009599NICHD NIH HHS K12 HD001262
6 · The paper itself

Abstract

The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a cohort of predominantly US and URM pediatric and prenatal patients suspected to have a genetic disorder. Eligible pediatric patients had multiple congenital anomalies and/or neurocognitive disabilities and prenatal patients had one or more structural anomalies, disorders of fetal growth, or fetal effusions. URM and US patients were prioritized for enrollment and underwent ES at a single academic center. We identified definitive positive or probable positive results in 201/845 (23.8%) patients, with a significantly higher diagnostic rate in pediatric (26.7%) compared to prenatal patients (19.0%) (P = 0.01). For both pediatric and prenatal patients, the diagnostic yield and frequency of inconclusive findings did not differ significantly between URM and non-URM patients or between patients with US status and those without US status. Our results demonstrate a similar diagnostic yield of ES between prenatal and pediatric URM/US patients and non-URM/US patients for positive and inconclusive results. These data support the use of ES to identify clinically relevant variants in patients from diverse populations.

Identifiers

PMID37236975
PMCPMC10220040

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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.