Article

Image-based DNA Sequencing Encoding for Detecting Low-Mosaicism Somatic Mobile Element Insertions

2024-11-08

Abstract excerpt

Active LINE-1 (L1), Alu , and SVA mobile elements in the human genome are capable of retrotransposition, resulting in novel mobile element insertions (MEIs) in both germline and somatic tissues. Detecting MEIs through DNA sequencing relies on supporting reads overlapping MEI junctions; however, artifacts from DNA amplification, sequencing, and alignment errors produce numerous false positives. Systematic detectio...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 20e0694d-f10a-5982-b378-5d7d30fe74a9
DOI: 10.1101/2024.11.07.619809

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Image-based DNA Sequencing Encoding for Detecting Low-Mosaicism Somatic Mobile Element InsertionsDOI 10.1101/2024.11.07.619809Read

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and gliaSemantic proximity Read

Identification of mobile element insertion from whole genome sequencing data using deep neural network modelSemantic proximity Read

MEIsensor: a deep-learning method for mobile element insertion discoverySemantic proximity Read

Precise characterization of somatic complex structural variations from paired long-read sequencing data with nanomonsvSemantic proximity Read

Cas9 targeted enrichment of mobile elements using nanopore sequencingSemantic proximity Read

Precise characterization of somatic complex structural variations from tumor/control paired long-read sequencing data with nanomonsv.Semantic proximity Read

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.Semantic proximity Read

Landscape of somatic retrotransposition in human cancers.Semantic proximity Read

Somatic repetitive element insertions Define New Biomarkers in Pan-cancer genomeSemantic proximity Read

Deep learning discerns cancer mutation exclusivitySemantic proximity Read

Mobile element biology: new possibilities with high-throughput sequencing.Semantic proximity Read

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and gliaSemantic proximity Read