Article

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

2018-12-21

Abstract excerpt

A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to detect multiple types of genomic variation with high levels of analytic sensitivity and reproducibility, and variant interpretation by a multi-disciplinary team (MDT) in the context of the clinical phenotype. We have sequenced 2,390 in...

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Literature Corpus work: 89ebf476-6c1e-5550-b890-33aa7f11d56b
DOI: 10.1101/504142

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