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

• Главные авторы: Debora Mancini-DiNardo (Автор), Thaddeus Judkins (Автор), John Kidd (Автор), Ryan Bernhisel (Автор), Courtney Daniels (Автор), Krystal Brown (Автор), Kirsten Meek (Автор), Jonathan Craft (Автор), Jayson Holladay (Автор), Brian Morris (Автор), Benjamin B. Roa (Автор)
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• Опубликовано: BMC, 2019-10-01T00:00:00Z.
• Предметы: article
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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...