Detailed Information

Cited 0 time in webofscience Cited 0 time in scopus
Metadata Downloads

Single-cell multi-gene identification of somatic mutations and gene rearrangements in canceropen access

Authors
Grimes, Susan MKim, Heon SeokRoy, SharmiliSathe, AnujaAyala, Carlos IBai, XiangqiAlmeda-Notestine, Alison FHaebe, SarahShree, TanayaLevy, RonaldLau, Billy TJi, Hanlee P
Issue Date
Jul-2023
Publisher
Oxford University Press
Citation
NAR Cancer, v.5, no.3, pp.1 - 17
Indexed
SCIE
SCOPUS
Journal Title
NAR Cancer
Volume
5
Number
3
Start Page
1
End Page
17
URI
https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/191764
DOI
10.1093/narcan/zcad034
ISSN
2632-8674
Abstract
In this proof-of-concept study, we developed a single-cell method that provides genotypes of somatic alterations found in coding regions of messenger RNAs and integrates these transcript-based variants with their matching cell transcriptomes. We used nanopore adaptive sampling on single-cell complementary DNA libraries to validate coding variants in target gene transcripts, and short-read sequencing to characterize cell types harboring the mutations. CRISPR edits for 16 targets were identified using a cancer cell line, and known variants in the cell line were validated using a 352-gene panel. Variants in primary cancer samples were validated using target gene panels ranging from 161 to 529 genes. A gene rearrangement was also identified in one patient, with the rearrangement occurring in two distinct tumor sites.
Files in This Item
Appears in
Collections
서울 자연과학대학 > 서울 생명과학과 > 1. Journal Articles

qrcode

Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.

Related Researcher

Researcher Kim, Heon Seok photo

Kim, Heon Seok
COLLEGE OF NATURAL SCIENCES (DEPARTMENT OF LIFE SCIENCE)
Read more

Altmetrics

Total Views & Downloads

BROWSE