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T1  - Comparison of Structural and Short Variants Detected by Linked-Read and Whole-Exome Sequencing in Multiple Myeloma 
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UR  - http://hdl.handle.net/10138/329650 
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A1  - Kumar, Ashwini; Adhikari, Sadiksha; Kankainen, Matti; Heckman, Caroline A. 
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Y1  - 2021 
LA  - eng 
AB  - Simple Summary The wide variety of next-generation sequencing technologies requires thorough evaluation and understanding of their advantages and shortcomings of these different approaches prior to their implementation in a precision medicine setting. Here, we compared the performance of two DNA sequencing methods, whole-exome and linked-read exome sequencing, to detect large structural variants (SVs) and short variants in eight multiple myeloma (MM) patient cases. For three patient cases, match... 
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KW  - genomics; NGS; linked-read sequencing; whole-exome sequencing; RNA sequencing; structural variants; short variants; FISH; multiple myeloma; 3122 Cancers 
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ER  -