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

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List

14 Sept 2022

Abstract excerpt

Clinical exome sequencing (CES) has shown great utility in the diagnosis of Mendelian disorders. CES can unravel secondary findings (SFs) unrelated to the primary diagnosis but with potential health implications. The American College of Medical Genetics and Genomics (ACMG) has published a guideline for reporting secondary findings and recently updated an ACMG SF v3.0 list comprising 73 genes. Several studies have...

Read the complete abstract on PubMed

Topics

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

Share to Genetic factors in colorectal cancer
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36143288
DOI: 10.3390/jpm12091503

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 ListPMID 36143288Read ↗

Secondary findings in 421 whole exome-sequenced Chinese children.Semantic proximity Read ↗

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).Semantic proximity Read ↗

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

Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.Semantic proximity Read ↗

Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.Semantic proximity Read ↗

Identification of novel FBN1 variations implicated in congenital scoliosis.Semantic proximity Read ↗

Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective.Semantic proximity Read ↗

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

Secondary findings in a large Pakistani cohort tested with whole genome sequencingSemantic proximity Read ↗

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.Semantic proximity Read ↗

Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.Semantic proximity Read ↗

Functional and In Silico Assessment of GDF3 Gene Variants in a Chinese Congenital Scoliosis Population.Semantic proximity Read ↗

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