Dr Daniel MacArthur - Seminars in Genomic Medicine

18 January 2016

Time: 5:30 - 6:30pm
Venue: Derek Willoughby LT, Charterhouse Square, Queen Mary University of London

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Dr Daniel MacArthur's research is focused on using genomics to uncover the functional impact of human genetic variation, and its role in causing severe genetic diseases. Dr MacArthur's clinical focus is on rare neuromuscular disorders. To date his lab's analyses have led to genetic diagnoses for over 250 families suffering from these diseases.

In this talk, he will share insights from the Exome Aggregation Consortium (ExAC), which has aggregated and jointly processed exome sequence data from over 92,000 individuals.