Article

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasets

2018-05-30

Abstract excerpt

Recent advances in DNA sequencing technologies have expanded our understanding of the molecular underpinnings for several genetic disorders, and increased the utilization of genomic tests by clinicians. Given the paucity of evidence to assess each variant, and the difficulty of experimentally evaluating a variant’s clinical significance, many of the thousand variants that can be generated by clinical tests are rep...

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Literature Corpus work: 1a4d5438-f904-555f-b593-705a7565581c
DOI: 10.1101/334235

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