The MacArthur lab and Rare Disease Group at ASHG 2018

Well, it is time once again for the American Society of Human Genetics Meeting – this year being held in San Diego, Oct. 16-20. Here’s a guide to the latest science that the MacArthur lab, the Broad Institute Rare Disease Group, and our close affiliates, will be presenting at the meeting.

Wednesday 9am: Konrad Karczewski, a post-doc in the MacArthur lab, will present an analysis of the distribution of loss-of-function tolerance across human genes, using the Genome Aggregation Database (gnomAD) data. Konrad will also announce the release of the gnomAD 2.1 dataset, a refined and heavily updated version of gnomAD v2, as well as the release of the new gnomAD browser (Ballroom 20A – upper level)

Wednesday 9:45am: Julia Goodrich, a post-doc in the MacArthur lab, will present an assessment of the penetrance of Mendelian disease variants using data from over 40,000 exomes collected by the AMP-T2D and T2D-GENES consortia (Ballroom 20A – upper level)

Wednesday 2pm: Clara Williamson, a clinical project coordinator in the Rare Disease Group, will present poster #1323 – a description of the Rare Genomes Project – a direct-to-patient study that aims to engage US families affected by rare disease directly in the research process (Exhibit hall – ground level)

Wednesday 3pm: Grace Tiao, a computational biologist in the MacArthur lab, will present poster #1464, which describes the comprehensive quality control pipeline used for the genetic data of  the 141,456 individuals of the newly-released gnomAD 2.1 dataset (Exhibit hall – ground level)

Wednesday 6:15pm: Tim Poterba, a software engineer in the Neale lab, will present the open-source Hail framework for scalable genomic analysis, a framework absolutely essential for (among many other things!) the production and analysis of the gnomAD dataset (Room 6D – upper level)

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Thursday 9am: Anne O’Donnell-Luria, the associate director of our Rare Disease Group, will present the history, methods and results of the Centers for Mendelian Genomics, a network of American centers for gene discovery in Mendelian disorders (Ballroom 20D – upper level)

Thursday 12pm: Nicky Whiffin, a postdoc in James Ware’s lab and an affiliate of the MacArthur lab, will present an analysis of variation in uORFs (small upstream open reading frames) in the gnomAD genomes dataset (Ballroom 20A – upper level)

Thursday 2pm: Ben Weisburd, a software engineer in the MacArthur lab, will present poster #1411, which describes seqr, a web-based tool for the analysis of rare disease patient genetic data used for all of our diagnoses within the Center for Mendelian Genomics and Rare Genomes Project (Exhibit hall – ground level)

Thursday 3pm: Zaheer Valivullah, a genomic variant analyst in the Rare Disease Group, will present poster #1198, describing new, potentially pathogenic variants implicated in neuromuscular disease (Exhibit hall – ground level)

Thursday 3pm: Kristen Laricchia, an associate computational biologist in the MacArthur lab, will present poster #1402, which describes her analysis of variation in the mitochondrial DNA of the gnomAD genomes dataset (Exhibit hall – ground level)

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Friday 2pm: Mike Wilson, an associate computational biologist in the MacArthur lab, will present poster #1607, which describes the computational pipeline the lab uses to assess the quality of exomes and genome sequence data from rare disease families, before it passes into our gene discovery and diagnosis processes (Exhibit hall – ground level)

Friday 2pm: Katherine Chao, a genomic variant analyst in the Rare Disease Group, will present poster #1637, describing the use of GATK’s germline CNV caller to make new diagnoses for rare disease families using exome sequencing data (Exhibit hall – ground level)

Friday 2pm: Qingbo Wang, a graduate student in the MacArthur lab, will present poster #2741, where he describes an analysis of multi-nucleotide variants in the gnomAD 2.1 dataset, as well as in rare disease family genetic data (Exhibit hall – ground level)

Friday 3pm: Matt Solomonson, a software engineer in the MacArthur lab, will present poster #1628, which describes the re-engineering of the gnomAD browser to handle larger data sets and add cool new features (e.g. transcript structure and ClinVar variants), as well as the extension of the browser framework to the display of results from case-control datasets (Exhibit hall – ground level)

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Saturday 9am: Beryl Cummings, a graduate student in the MacArthur lab, will present a transcript-level expression metric, which can be used to understand the phenotypic result of variation in differentially-expressed exons – and has turned out to be a powerful way to prioritize variants in a variety of diseases (Room 6C – upper level)

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