Article

Clinical utility of Whole Exome Sequencing for rare Mendelian disorders: phenotypic-driven strategy for a high diagnostic yield and identification of 48 novel variants

2020-11-01

Abstract excerpt

About 6,000 to 7,000 different rare disorders with suspected genetic etiologies have been described and in almost 4,500 of them the causative gene(s) have been identified. The advent of Next-Generation Sequencing (NGS) technologies has revolutionized genomic research and diagnostics, representing a major advance in identification of pathogenic genetic variations. WES facilitates a faster and more cost-effective ro...

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Literature Corpus work: 876c1b04-9f61-5b84-ac77-17f14f834e42
DOI: 10.22541/au.160425547.72459540/v1

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