Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM.
Thibodeau ML, et al. Among authors: pleasance s.
Genet Med. 2020 Nov;22(11):1892-1897. doi: 10.1038/s41436-020-0880-8. Epub 2020 Jul 6.
Genet Med. 2020.
PMID: 32624572
Free PMC article.