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

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2017

Amr Sami S, Al Turki Saeed H, Lebo Matthew, Sarmady Mahdi, Rehm Heidi L, Abou Tayoun Ahmad N

Abstract excerpt

PURPOSE: Classification of novel variants is a major challenge facing the widespread adoption of comprehensive clinical genomic sequencing and the field of personalized medicine in general. This is largely because most novel variants do not have functional, genetic, or population data to support their clinical classification. METHODS: To improve variant interpretation, we leveraged the Exome Aggregation...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to Connective Tissue Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Genetic Association Studies

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Hearing Loss

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 27657688
DOI: 10.1038/gim.2016.134

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

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.PMID 27657688Read ↗

Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSemantic proximity Read ↗

A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disordersSemantic proximity Read ↗

Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost projectSemantic proximity Read ↗

Extracting and calibrating evidence of variant pathogenicity from population biobank dataSemantic proximity Read ↗

Closing the gap: Solving complex medically relevant genes at scaleSemantic proximity Read ↗

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participantsSemantic proximity Read ↗

Extracting and calibrating evidence of variant pathogenicity from population biobank data.Semantic proximity Read ↗

Identification of pathogenic variant enriched regions across genes and gene families.Semantic proximity Read ↗

Dissecting the functional landscape of rare diseases through genomic variation in a heterogeneous cohort of 11,000 patientsSemantic proximity Read ↗

Identification of pathogenic variant enriched regions across genes and gene familiesSemantic proximity Read ↗

Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population settingSemantic proximity Read ↗

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and GenomiserSemantic proximity Read ↗

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