Here’s a guide to the latest science that the MacArthur lab (and close affiliates!) will be presenting at the American Society of Human Genetics Meeting in Baltimore Oct 6-10, 2015.
| Wednesday 3:45p | Eric Minikel will present an evaluation of reportedly disease-causing variants in the prion protein gene (PRNP) by comparing allele frequencies in 60,706 ExAC and 531,575 23andMe individuals to a case series of 16,025 prion disease patients. The analysis reveals a spectrum of penetrance and, importantly for therapeutics, a tolerance for loss-of-function variation. Room 316, Level 3 |
| Wednesday 4:00p | Kaitlin Samocha, a graduate student in Mark Daly’s lab who’s been working with us on ExAC analyses, will present Evaluation of the regional variability of missense constraint in 60,000 exomes. We have previously focused on identifying genes that are intolerant of missense. With the large number of individuals in the Exome Aggregation Consortium data, we expect enough missense variants per gene to search for regions within genes that are intolerant of missense variation. Room 316, Level 3 |
| Wednesday 4:15p | Taru Tukiainen has been exploring the landscape X chromosome inactivation across human tissues and will present the findings from the analysis of 1500 single cells and population-level data in her talk at the regulatory variation session. Ballroom III, Level 4 |
| Wednesday 5:00p | Daniel Birnbaum will present poster 1735, Improving the annotation of splice-disrupting loss-of-function variants. Much work has been done on both modeling sequence motifs essential to splicing and predicting when sequence variants will disrupt splicing. However, this work has not been applied to the functional annotation of variant call sets. Here, we incorporate splice variant prediction into the Ensembl’s Variant Effect Predictor (VEP) annotation framework. Exhibit Hall, Level 1 |
| Thursday 11:00a | Graduate student Beryl Cummings will present poster 2931, Improving genetic diagnoses in Mendelian disease with whole genome and RNA sequencing. The poster describes the value of both technologies for detecting and functionally validating variants that are invisible to or interpretable by current standard diagnostic methods for patients with neuromuscular disorders. Exhibit Hall, Level 1 |
| Thursday 5:00p | Former lab member Andrew Hill (University of Washington), will present work on phased interpretation of multi-nucleotide polymorphisms in ExAC completed with current MacArthur Lab graduate student Beryl Cummings. Ballroom III, Level 4 |
| Saturday 10:30a | Daniel MacArthur will present an overall summary of the latest news from the Exome Aggregation Consortium: new scientific results, new features in the ExAC browser, and plans for expansion to over 100,000 exomes. Room 309, Level 3 |
MacArthur Lab 
Hi There ppl. There are a good reference article commenting the importance, threshold value to use as a filter in variant annotations in exome or gene painels? Thank you
schlogl@hotmail.com
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sorry I forgot to mention allele frequency…
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Daniel
It is very impressive how you’ve managed to focus so effectively on so many diverse possibilities and find a way to tease out sense where there seemed to be none. Well done
Greg
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