Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

doi:10.1186/s13073-021-00965-0

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

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome medicine - 14 Oct 2021

De La Vega Francisco M, Chowdhury Shimul, Moore Barry, Frise Erwin, McCarthy Jeanette, Hernandez Edgar Javier, Wong Terence, James Kiely, Guidugli Lucia, Agrawal Pankaj B, Genetti Casie A, Brownstein Catherine A, Beggs Alan H, Löscher Britt-Sabina, Franke Andre, Boone Braden, Levy Shawn E, Õunap Katrin, Pajusalu Sander, Huentelman Matt, Ramsey Keri, Naymik Marcus, Narayanan Vinodh, Veeraraghavan Narayanan, Billings Paul, Reese Martin G, Yandell Mark, Kingsmore Stephen F

Abstract excerpt

BACKGROUND: Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds promise to greatly simplify and speed genome interpretation by integrating predictive methods with the growing knowledge of genetic disease. Here we assess the...

Read the complete abstract on PubMed

Topics

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

Share to Artificial Intelligence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Exome Sequencing

Share to Genomics

Share to Genomics and Rare Diseases

Share to Genotype

Share to Phenotype

Share to Rare Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 34645491
DOI: 10.1186/s13073-021-00965-0
PMCID: PMC8515723

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

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.PMID 34645491Read ↗

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.Semantic proximity Read ↗

Increasing clinical utility of prenatal exome sequencing: the potential power of phenotype-driven Artificial Intelligence analysisSemantic proximity Read ↗

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationSemantic proximity Read ↗

Berrylyzer-an Efficient, Traceable, and Lightweight Intelligent Agentic System for Prenatal Genetic DiagnosisSemantic proximity Read ↗

AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian DisordersSemantic proximity Read ↗

AI in Variant Analysis: Fast Track to Genetic DiagnosesSemantic proximity Read ↗

Artificial Intelligence in the Diagnosis of Pediatric Rare Diseases: From Real World Data Towards a Personalized Medicine ApproachSemantic proximity Read ↗

AI in variant analysis: fast track to genetic diagnoses.Semantic proximity Read ↗

Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.Semantic proximity Read ↗

G.AI: an AI-driven platform for phenotype standardization, variant interpretation and structured clinical reporting in rare disease genomic diagnosis.Semantic proximity Read ↗

Predicting molecular events underlying rare diseases using variant annotation, aberrant gene expression events, and human phenotype ontologySemantic proximity Read ↗

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