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

Clinical Interpretation of Sequence Variants.

Current protocols in human genetics - 1 Jun 2020

Zhang Junyu, Yao Yanyi, He Haixian, Shen Jun

Abstract excerpt

Clinical interpretation of DNA sequence variants is a critical step in reporting clinical genetic testing results. Application of next-generation sequencing technology in molecular genetic testing has facilitated diagnoses of genetic disorders in clinical practice. However, the large number of DNA sequence variants detected in clinical specimens, many of which have never been seen before, make clinical...

Read the complete abstract on PubMed

Topics

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

Share to Genomics
Share to Genetic Testing
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to High-Throughput Nucleotide Sequencing

Share to Information Dissemination

Share to Sequence Analysis, DNA

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 32176464
DOI: 10.1002/cphg.98
PMCID: PMC7431429

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Interpretation of Sequence Variants.PMID 32176464Read ↗

The current state of clinical interpretation of sequence variants.Semantic proximity Read ↗

Challenges and Considerations in Sequence Variant Interpretation for Mendelian DisordersSemantic proximity Read ↗

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Semantic proximity Read ↗

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretationSemantic proximity Read ↗

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.Semantic proximity Read ↗

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.Semantic proximity Read ↗

From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation.Semantic proximity Read ↗

Clinical Interpretation of Genomic Variations.Semantic proximity Read ↗

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.Semantic proximity Read ↗

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Semantic proximity Read ↗

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation frameworkSemantic proximity Read ↗

Toward Automatic Variant Interpretation: Discordant Genetic Interpretation Across Variant Annotations for ClinVar Pathogenic VariantsSemantic proximity Read ↗

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