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. |
MacArthur Lab 