Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing

• Main Authors: Debora Mancini-DiNardo (Author), Thaddeus Judkins (Author), John Kidd (Author), Ryan Bernhisel (Author), Courtney Daniels (Author), Krystal Brown (Author), Kirsten Meek (Author), Jonathan Craft (Author), Jayson Holladay (Author), Brian Morris (Author), Benjamin B. Roa (Author)
• Format: Book
• Published: BMC, 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Healthcare providers increasingly use information about pathogenic variants in cancer predisposition genes, including sequence variants and large rearrangements (LRs), in medical management decisions. While sequence variant detection is typically robust, LRs can be difficult to d...