Archive

• The gnomAD papers
• gnomAD v3.0
• Structural variants in gnomAD
• gnomAD v2.1
• The MacArthur lab and Rare Disease Group at ASHG 2018
• Response to “Proposal to Update Data Management of Genomic Summary Results Under the NIH Genomic Data Sharing Policy”
• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing – a walk through
• The genome Aggregation Database (gnomAD)
• Announcing the Exome Aggregation Consortium paper
• Reproduce all the figures!: a user’s guide to ExAC, part 2
• A personal journey to quantify disease risk
• The MacArthur Lab at ASHG2015
• A Guide to the Exome Aggregation Consortium (ExAC) Data Set
• The MacArthur lab at ASHG2014
• What do we miss with exome sequencing?
• Converting genetic variants to their minimal representation
• Guidelines for finding genetic variants underlying human disease