Mate-Pair Sequencing

Overview

Mate-pair sequencing (long-insert paired-end sequencing) involves creating large DNA inserts (typically 2–20 kb) that are circularized and then sequenced at both ends. The resulting long-range read pairs enable detection of large structural variants — inversions, translocations, deletions — not readily resolved by standard short-insert paired-end sequencing.

Used by

• Applied in ICGC PedBrain pilocytic astrocytoma study: long-insert mate-pair sequencing performed on 68/96 cases alongside WGS and RNA-seq for complementary structural variant detection; aided discovery of novel BRAF fusion partners and confirmed KIAA1549:BRAF rearrangements PMID:23817572
• Mate-pair sequencing applied as part of multi-platform genomic workup of PCNSL to detect structural rearrangements alongside aCGH, WES, targeted sequencing, Sanger, and FISH. PMID:25991819

Notes

• Corpus-grown slug; not found in cBioPortal canonical gene panel ontology.
• Provides complementary SV resolution to standard WGS paired-end libraries, particularly for large inversions and translocations.

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:25991819

This page was processed by crosslinker on 2026-05-14.