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

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

25 Aug 2022

Abstract excerpt

DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. Here we address the limitations of splicing variant identification and interpretation by pairing DNA and RNA sequencing and describe the mutational and splicing landscape in a...

Read the complete abstract on PubMed

Topics

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

Share to Cancer Genomics and Diagnostics
Share to Genetic factors in colorectal cancer
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36008414
DOI: 10.1038/s41525-022-00323-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancerPMID 36008414Read ↗

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 ↗

A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromesSemantic proximity Read ↗

Sequencing approaches in hereditary cancer testing: strengths, limitations and future directionsSemantic proximity Read ↗

Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profilingSemantic proximity Read ↗

Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes.Semantic proximity Read ↗

Germline testing data validate inferences of mutational status for variants detected from tumor-only sequencingSemantic proximity Read ↗

Aberrant splicing prediction across human tissuesSemantic proximity Read ↗

Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.Semantic proximity Read ↗

Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences.Semantic proximity Read ↗

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.Semantic proximity Read ↗

A comprehensive characterization of cis-acting splicing-associated variants in human cancerSemantic proximity Read ↗

Spectrum and genotyping strategies of "dark" genetic matter in germline susceptibility genes of tumor syndromes.Semantic proximity Read ↗

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