Methods and Tools for Assessing the Impact of Genetic Variations

Страна: США

Город: Orlando

Тезисы до: 16.08.2017

Даты: 17.10.17 — 17.10.17

Область наук: Биологические;

Е-мейл Оргкомитета: http://events.hgvs.org/

Организаторы: Human Genome Variation Society

 

Both researchers and clinicians are awash in full exome and genome sequences, with the myriad of variants they harbor. For some purposes, well-studied variants provide research insight and clinical resolutions. But more often, the variants’ roles are not conclusively known from previous studies, and therefore methods are necessary to help inform their phenotypic impact. The 2017 scientific meeting of the Human Genome Variation Society will present cutting-edge research and practical approaches involving methods for interpreting human genetic variants.

 


Topics

 

Human Splicing Finder

Variant Effect Predictor (EBI)

Clinical Relevance of In Silico Tools to assess variants (VEST-Indel, other)

Validating and Calibrating Computational and Functional Approaches in BRCA and MMR

REVEL

Other topics TBA

 

Веб-сайт конференции: http://events.hgvs.org/

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