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Genome Sequencing Detects a Wide Range of Clinically Relevant Copy-Number Variants and Other Genomic Alterations.

Kiely N. James,Shimul Chowdhury,Yan Ding,Sergey Batalov,Kelly Watkins,Yong Hyun Kwon,Lucitia Van Der Kraan,Katarzyna Ellsworth,Stephen F. Kingsmore,Lucia Guidugli

Genetics in Medicine（2023）

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关键词
bioinformatic pipeline,clinical genome sequencing,copy-number variant
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