Scaling accurate genetic variant discovery to tens of thousands of samples

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1A Loss of Function Screen of Identified Genome-Wide Association Study Loci Reveals New Genes Controlling Hematopoiesis2014 · 31 citations
2. 2An integrated map of genetic variation from 1,092 human genomes2012 · 8,280 citations
3. 3Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population2014 · 49 citations
4. 4Integrating sequencing datasets to form highly confident SNP and indel genotype calls for a whole human genome2013 · 551 citations
5. 5A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree2016 · 428 citations