GenomicsbioRxivPreprint
A novel approach for simultaneous detection of structural and single-nucleotide variants based on a combination of chromosome conformation capture and exome sequencing
Maria M. Gridina, Timofey A. Lagunov, Polina S. Belokopytova…·Veniamin Fishman
This paper introduces a method combining exome sequencing and chromosome conformation capture to detect both SNVs and SVs, demonstrating its effectiveness in identifying causative variants in rare disorders.
DOI 10.1101/2024.01.26.577292