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

A retrospective cohort analysis of the Yale pediatric genomics discovery program.

American journal of medical genetics. Part A - 1 Oct 2022

Al-Ali Samir, Jeffries Lauren, Faustino E Vincent S, Ji Weizhen, Mis Emily, Konstantino Monica, Zerillo Cynthia, Jiang Yong-Hui, Spencer-Manzon Michele, Bale Allen, Zhang Hui, McGlynn Julie, McGrath James M, Tremblay Thierry, Brodsky Nina N, Lucas Carrie L, Pierce Richard, Deniz Engin, Khokha Mustafa K, Lakhani Saquib A

Abstract excerpt

The Pediatric Genomics Discovery Program (PGDP) at Yale uses next-generation sequencing (NGS) and translational research to evaluate complex patients with a wide range of phenotypes suspected to have rare genetic diseases. We conducted a retrospective cohort analysis of 356 PGDP probands evaluated between June 2015 and July 2020, querying our database for participant demographics, clinical characteristics, NGS...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35899841
DOI: 10.1002/ajmg.a.62918
PMCID: PMC9474639

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

A retrospective cohort analysis of the Yale pediatric genomics discovery program.PMID 35899841Read ↗

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single centerSemantic proximity Read ↗

Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.Semantic proximity Read ↗

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseasesSemantic proximity Read ↗

Paediatric genomics: diagnosing rare disease in children.Semantic proximity Read ↗

IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomesSemantic proximity Read ↗

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis.Semantic proximity Read ↗

Sequencing-based diagnostics for pediatric genetic diseases: progress and potentialSemantic proximity Read ↗

The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).Semantic proximity Read ↗

Secondary findings in pediatric genomic testing: clinical insights from Turkey.Semantic proximity Read ↗

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.Semantic proximity Read ↗

A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseasesSemantic proximity Read ↗

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

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