Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

doi:10.1038/gim.2014.191

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

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2015

Zhu Xiaolin, Petrovski Slavé, Xie Pingxing, Ruzzo Elizabeth K, Lu Yi-Fan, McSweeney K Melodi, Ben-Zeev Bruria, Nissenkorn Andreea, Anikster Yair, Oz-Levi Danit, Dhindsa Ryan S, Hitomi Yuki, Schoch Kelly, Spillmann Rebecca C, Heimer Gali, Marek-Yagel Dina, Tzadok Michal, Han Yujun, Worley Gordon, Goldstein Jennifer, Jiang Yong-Hui, Lancet Doron, Pras Elon, Shashi Vandana, McHale Duncan, Need Anna C, Goldstein David B

Abstract excerpt

PURPOSE: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype. Here, we extend this paradigm by evaluating novel bioinformatics approaches to aid identification of new gene-disease associations. METHODS: We analyzed 119...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome

Share to Genetic Association Studies

Share to Genetic Diseases, Inborn

Share to Genomics

Share to Genotype

Share to High-Throughput Nucleotide Sequencing

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 25590979
DOI: 10.1038/gim.2014.191
PMCID: PMC4791490

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.PMID 25590979Read ↗

Genome-wide significance testing of variation from single case exomes.Semantic proximity Read ↗

Findings of a 1303 Korean whole-exome sequencing study.Semantic proximity Read ↗

Analysis of protein-coding genetic variation in 60,706 humans.Semantic proximity Read ↗

High Frequency Actionable Pathogenic Exome Mutations in an Average-Risk CohortSemantic proximity Read ↗

Network properties of genes harboring inherited disease mutations.Semantic proximity Read ↗

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.Semantic proximity Read ↗

Revisiting disease genes based on whole-exome sequencing in consanguineous populations.Semantic proximity Read ↗

Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.Semantic proximity Read ↗

A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.Semantic proximity Read ↗

Actionable, pathogenic incidental findings in 1,000 participants' exomes.Semantic proximity Read ↗

Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: a Computational Phenotype-driven ApproachSemantic proximity Read ↗

Impact of integrated translational research on clinical exome sequencing.Semantic proximity Read ↗

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