Article

Long-read whole genome sequencing identifies causal structural variation in a Mendelian disease

2016-12-02

Abstract excerpt

Current clinical genomics assays primarily utilize short-read sequencing (SRS), which offers high throughput, high base accuracy, and low cost per base. SRS has, however, limited ability to evaluate tandem repeats, regions with high [GC] or [AT] content, highly polymorphic regions, highly paralogous regions, and large-scale structural variants. Long-read sequencing (LRS) has complementary strengths and offers a me...

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Literature Corpus work: b7720f7a-9760-53bc-9a67-a27a960ae72f
DOI: 10.1101/090985

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