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

Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes.

Genome research - 20 Nov 2024

Gulsuner Suleyman, AbuRayyan Amal, Mandell Jessica B, Lee Ming K, Bernier Greta V, Norquist Barbara M, Pierce Sarah B, King Mary-Claire, Walsh Tom

Abstract excerpt

The vast majority of deeply intronic genomic variants are benign, but some extremely rare or private deep intronic variants lead to exonification of intronic sequence with abnormal transcriptional consequences. Damaging variants of this class are likely underreported as causes of disease for several reasons: Most clinical DNA and RNA testing does not include full intronic sequences; many of these variants lie in...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia Telangiectasia Mutated Proteins
Share to BRCA1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Complementary

Share to Fanconi Anemia Complementation Group N Protein

Share to Genes, Tumor Suppressor

Share to Introns

Share to Neoplasms

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 39271294
DOI: 10.1101/gr.279158.124
PMCID: PMC11610570

Genes

ATM
BRCA1
PALB2

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

Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes.PMID 39271294Read ↗

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.Semantic proximity Read ↗

Deep intronic mutations and human disease.Semantic proximity Read ↗

Comprehensive characterisation of intronic mis-splicing mutations in human cancers.Semantic proximity Read ↗

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.Semantic proximity Read ↗

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant SplicingSemantic proximity Read ↗

Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.Semantic proximity Read ↗

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.Semantic proximity Read ↗

Pan-cancer repository of validated natural and cryptic mRNA splicing mutationsSemantic proximity Read ↗

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancerSemantic proximity Read ↗

Computational prediction of human deep intronic variationSemantic proximity Read ↗

Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.Semantic proximity Read ↗

Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.Semantic proximity Read ↗

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