Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.

BMC genetics - 28 Nov 2017

Shraga Roman, Yarnall Sarah, Elango Sonya, Manoharan Arun, Rodriguez Sally Ann, Bristow Sara L, Kumar Neha, Niknazar Mohammad, Hoffman David, Ghadir Shahin, Vassena Rita, Chen Serena H, Hershlag Avner, Grifo Jamie, Puig Oscar

Abstract excerpt

BACKGROUND: Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9138 subjects referred to carrier screening. Self-reported ethnicity gathered from test requisition forms and during...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cystic Fibrosis Research Advances
Share to Ethnicity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Human Genome Project

Share to Models, Genetic

Share to Polymorphism, Single Nucleotide

Share to Racial Groups

Share to Self Report

Source

Open in PubMed Open full text

Identifiers

PMID: 29179688
DOI: 10.1186/s12863-017-0570-y
PMCID: PMC5704547

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.PMID 29179688Read ↗

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screeningSemantic proximity Read ↗

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelinesSemantic proximity Read ↗

Genetic-Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical GuidelinesSemantic proximity Read ↗

Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.Semantic proximity Read ↗

The Complex Relationship of Genetic Ancestry With Self-Reported Race/Ethnicity.Semantic proximity Read ↗

The impact of self-reported ethnicity versus genetic ancestry on phenotypic characteristics of polycystic ovary syndrome (PCOS).Semantic proximity Read ↗

Validating a research ethnicity questionnaire using genomic markers.Semantic proximity Read ↗

Ethnicity-Based Carrier ScreeningSemantic proximity Read ↗

Precision medicine: does ethnicity information complement genotype-based prescribing decisions?Semantic proximity Read ↗

Challenges in providing residual risks in carrier testingSemantic proximity Read ↗

Integrating Genetic Ancestry into Clinical Care: Accuracy, Utility, and Stakeholder ViewsSemantic proximity Read ↗

Race, Ethnicity and Ancestry in Unrelated Transplant Matching for the National Marrow Donor Program: A Comparison of Multiple Forms of Self-Identification with GeneticsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.