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 genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

4 Apr 2025

Abstract excerpt

Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the tumor suppressor gene APC. Confirmation of diagnosis was not achieved by cancer gene panel and exome sequencing or custom array-CGH in a family with suspected FAP across five generations. Long-read genome sequencing (PacBio), short-read genome sequencing (Illumina), short-read RNA sequencing, and further validations were...

Read the complete abstract on PubMed

Topics

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

Share to Genetic factors in colorectal cancer
Share to RNA and protein synthesis mechanisms
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40180948
DOI: 10.1038/s41525-025-00485-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APCPMID 40180948Read ↗

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.Semantic proximity Read ↗

Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonizationSemantic proximity Read ↗

Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms.Semantic proximity Read ↗

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Semantic proximity Read ↗

Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes.Semantic proximity Read ↗

Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposisSemantic proximity Read ↗

Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun SequencingSemantic proximity Read ↗

A comprehensive workflow for target adaptive sampling long-read sequencing applied to hereditary cancer patient genomesSemantic proximity Read ↗

A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing.Semantic proximity Read ↗

Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.Semantic proximity Read ↗

A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis.Semantic proximity Read ↗

Identification of novel SNPs by next-generation sequencing of the genomic region containing the APC gene in colorectal cancer patients in China.Semantic proximity Read ↗

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