The MacArthur lab at ASHG2014

Several members of the MacArthur lab will be presenting at the American Society of Human Genetics Meeting in San Diego Oct 18-22, 2014. Here’s a rundown of what not to miss.

Sunday 11:30a Eric Minikel and his wife Sonia Vallabh will speak in invited session #6: Crowdsourced Genetics, chronicling their own story of becoming scientists after getting some bad genetic news, and discussing how they’ve engaged with crowds through blogging and crowdfunding.
Room 6AB, Upper Level.
Sunday 4:00p Eric Minikel will present poster 1255S on using allele frequency information from 63,000 exomes to analyze disease penetrance and loss-of-function tolerance in his favorite dominant disease gene, PRNP.
Exhibit Hall, Poster 1255S.
Monday 8:00a Konrad Karczewski will introduce the Human Knockout Project and the LOFTEE tool that he has developed to identify true loss-of-function variants.
Hall B1, Ground Level.
Monday 10:30a Daniel MacArthur will describe the Exome Aggregation Consortium (ExAC) analysis of over 61,000 exomes, and announce the public release of allele frequency data from this massive data-set.
Room 6AB, Upper Level.
Monday 2:00p Karol Estrada and collaborator Anthony Day-Williams will present poster 773M, a joint effort between the MacArthur Lab and Biogen Idec to use whole genome sequencing to identify causal variants in an ultra-rare autoimmune disease, neuromyelitis optica (NMO).
Exhibit Hall, Poster 773M.
Monday 4:30p Honorary lab member Kaitlin Samocha (a graduate student in Mark Daly’s lab) recently developed methods for computing missense constraint [Samocha 2014]. Now, with the vastly greater statistical power of the ExAC dataset, she will speak about applying this concept to loss-of-function constraint.
Room 20A, Upper Level.
Monday 5:30p Taru Tukiainen will show how pooled and single-cell RNA-seq data can be combined to provide new insights on X chromosome inactivation in her talk in the epigenomics session.
Room 30, Upper Level.

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