P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants
| Title: | P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants |
|---|---|
| Authors: | Joseph Devaney; Jessica Noya; April Berlyoung; Aaron Johnson; Julianna Spangler; Rhonda Brandon; Kathleen Hruska; Lucas Lochovsky; Egor Dolzhenko; Xiao Chen; Michael Eberle; Alexander Robertson; Paul Kruszka; Gustavo Stolovitzky; Scott Newman |
| Source: | Genetics in Medicine Open, Vol 2, Iss , Pp 101189- (2024) |
| Publisher Information: | Elsevier |
| Publication Year: | 2024 |
| Collection: | Directory of Open Access Journals: DOAJ Articles |
| Subject Terms: | Genetics; QH426-470; Medicine |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2949774424003352; https://doaj.org/toc/2949-7744; https://doaj.org/article/2e662ee18bbc439dac070a75a0ead7f9 |
| DOI: | 10.1016/j.gimo.2024.101189 |
| Availability: | https://doi.org/10.1016/j.gimo.2024.101189; https://doaj.org/article/2e662ee18bbc439dac070a75a0ead7f9 |
| Accession Number: | edsbas.3B38A33A |
| Database: | BASE |