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ea0063oc9.1 | Thyroid 2 | ECE2019

3D mapping and in silico predictions of the DEHAL1 enzyme as a tool to discriminate pathogenic mutations from non-functional variants in hypothyroidism

Jorge Garcia-Gimenez , Angel Gonzalez Wong , Cristian Gonzalez-Guerrero , Ainhoa Iglesias , Emily Styrers , Jose Cocho , Leonardo Pardo , Carlos Moreno J

Next Generation Sequencing (NGS) is becoming widely used for genetic diagnosis. While its capacity for detection of human genetic variations (GV) is outstanding, drawbacks is the identification of numerous GV of which functional significance cannot be predicted in silico by computer programs (variants of uncertain significance, VUS). Currently, only sensitive (but also expensive and time-demanding) in vitro cell assays, can trustfully ascertain pathogenicity ...

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Endocrine Abstracts

3D mapping and in silico predictions of the DEHAL1 enzyme as a tool to discriminate pathogenic mutations from non-functional variants in hypothyroidism

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