Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

doi:10.1038/gim.2017.86

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

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018

Merker Jason D, Wenger Aaron M, Sneddon Tam, Grove Megan, Zappala Zachary, Fresard Laure, Waggott Daryl, Utiramerur Sowmi, Hou Yanli, Smith Kevin S, Montgomery Stephen B, Wheeler Matthew, Buchan Jillian G, Lambert Christine C, Eng Kevin S, Hickey Luke, Korlach Jonas, Ford James, Ashley Euan A

Abstract excerpt

PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read sequencing (LRS) has complementary strengths, and we aimed to determine whether LRS could offer a means to identify overlooked genetic variation in patients undiagnosed by SRS.MethodsWe performed low-coverage genome LRS to identify...

Read the complete abstract on PubMed

Topics

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

Share to Cyclic AMP-Dependent Protein Kinase RIalpha Subunit

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Echocardiography

Share to Genetic Association Studies

Share to Genetic Diseases, Inborn

Share to Genome, Human

Share to Genomics

Share to Sequence Analysis, DNA

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 28640241
DOI: 10.1038/gim.2017.86
PMCID: PMC5741540

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

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.PMID 28640241Read ↗

Long-read whole genome sequencing identifies causal structural variation in a Mendelian diseaseSemantic proximity Read ↗

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingSemantic proximity Read ↗

[Resolving Genomic Mysteries with Long-read Sequencing].Semantic proximity Read ↗

Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseasesSemantic proximity Read ↗

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencingSemantic proximity Read ↗

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian DisordersSemantic proximity Read ↗

Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseasesSemantic proximity Read ↗

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Semantic proximity Read ↗

A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.Semantic proximity Read ↗

Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.Semantic proximity Read ↗

A New Class of Pathogenic Non-Coding Variants in GLA—LRS Reveals Non-Coding Variants in Fabry DiseaseSemantic proximity Read ↗

Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic TestingSemantic proximity Read ↗

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