Article

Unveiling the Landscape of Reportable Genetic Secondary Findings in the Spanish Population: A Comprehensive Analysis Using the Collaborative Spanish Variant Server Database

2024-08-03

Abstract excerpt

<h4>ABSTRACT</h4> The escalating adoption of Next Generation Sequencing (NGS) in clinical diagnostics reveals genetic variations, termed secondary findings (SFs), with health implications beyond primary diagnoses. The Collaborative Spanish Variant Server (CSVS), a crowdsourced database, contains genomic data from more than 2100 unrelated Spanish individuals. Following the American College of Medical genetics (ACM...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d65d3ea1-a312-533d-bad6-3a0bf34ef73e
DOI: 10.1101/2024.08.01.24311343

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Unveiling the Landscape of Reportable Genetic Secondary Findings in the Spanish Population: A Comprehensive Analysis Using the Collaborative Spanish Variant Server DatabaseDOI 10.1101/2024.08.01.24311343Read

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

Frequency of actionable Exomic secondary findings in 160 Colombian patients: Impact in the healthcare system.Semantic proximity Read

CSVS, a crowdsourcing database of the Spanish population genetic variability.Semantic proximity Read

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

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencingSemantic proximity Read

Medically Actionable Secondary Findings from Whole Exome Sequencing (WES) Data in a Sample of 3,972 IndividualsSemantic proximity Read

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and GenomicsSemantic proximity Read

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

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

Population differences in allele frequencies modify the clinical interpretation of genetic variants associated with rare diseases in Chilean patientsSemantic proximity Read

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)Semantic proximity Read

Databases of genomic variation and phenotypes: existing resources and future needs.Semantic proximity Read