Automated exposition of known and novel multiple myeloma genomic variants using a single sequencing platform

摘要

A sequencing capture array for identifying mutations in Multiple Myeloma is disclosed. Also disclosed are targeted next generation sequencing methods for identifying SNV, CNV, and translocation mutations in Multiple Myeloma tumor cells. A capture array representing fewer than 500 genes implicated in Multiple Myeloma can be used to analyze tumor mutations and create a personalized treatment plan for a Multiple Myeloma patient. Analytical methods are presented that allow tumor mutations to be elucidated with coverage at a sequencing depth of no more than 500×, or as low as 100×, with optimal efficiency achieved at a sequencing depth of about 300×.