Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.

doi:10.1016/j.gim.2024.101225

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

Community

Back to search

Article

Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2024

Saeidian Amir Hossein, March Michael E, Youssefian Leila, Watson Deborah J, Bhandari Esha, Wang Xiang, Zhao Xiaonan, Owen Nichole Marie, Strong Alanna, Harr Margaret H, Bhoj Elizabeth, Zackai Elaine, Vahidnezhad Hassan, Gudjonsson Johann E, Cederbaum Stephen D, Deignan Joshua L, Glessner Joseph, Grody Wayne W, Hakonarson Hakon

Abstract excerpt

PURPOSE: Clinical next-generation sequencing is an effective approach for identifying pathogenic sequence variants that are medically actionable for participants and families but are not associated with the participant's primary diagnosis. These variants are called secondary findings (SFs). According to the literature, there is no report of the types and frequencies of SFs in a large pediatric cohort that...

Read the complete abstract on PubMed

Topics

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

Share to Black or African American

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Ethnicity

Share to Genetic Testing

Share to Genetics, Medical

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to Incidental Findings

Source

Open in PubMed

Identifiers

PMID: 39096151
DOI: 10.1016/j.gim.2024.101225

Genes

CHEK2
TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.PMID 39096151Read ↗

Secondary findings in pediatric genomic testing: clinical insights from Turkey.Semantic proximity Read ↗

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.Semantic proximity Read ↗

Genomic sequencing identifies secondary findings in a cohort of parent study participantsSemantic proximity Read ↗

Inherited burden for disease predisposition in diverse populationsSemantic proximity Read ↗

ACMG Secondary Findings in the Brazilian Rare Genomes Project: Insights from 5,402 genome sequencingSemantic proximity Read ↗

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.Semantic proximity Read ↗

Genomic sequencing identifies secondary findings in a cohort of parent study participants.Semantic proximity Read ↗

Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.Semantic proximity Read ↗

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.Semantic proximity Read ↗

A Comprehensive Follow-Up Study Identifying Diagnostic Evidences for Secondary FindingSemantic proximity Read ↗

The rate of secondary genomic findings in the Saudi population.Semantic proximity Read ↗

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