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We participated to a workshop during the Variant Effect Prediction Training Course, which took place in Heraklion, Greece, from 31 October 2016 to 3 November 2016.

The biennial Mutation Detection Training Courses were initiated by Prof. Richard Cotton in 1998, alternating with the biennial International Workshops on Mutation Detection. The original training courses were focussed on the laboratory technologies to detect changes in DNA.  Since the NGS revolution shifted the problem from detecting variants to evaluating their potential consequences (classification), the focus has been shifted to “Variant Effect Prediction”.

Expected Participants are people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis.

Expected knowledge – basic knowledge of molecular biology (DNA, RNA, protein), molecular biology lab technologies (esp. sequencing) and (human) genetics.



Alamut Visualに
寄せられた感想

"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."

JO MARTINDALE

Wellington Regional Genetics Laboratory, Wellington, New Zealand

イベント

24.01.2018

Assises de Génétique 2018

France

17.10.2017

ASHG 2017

USA