Exome Sequencing of OM Families

DNA samples from individuals with OM from 28 Minnesota, 217 Finnish, and 14 Pakistani families were submitted for exome sequencing using an Illumina HiSeq instrument, at an average 40–60 × coverage. For the Minnesota and Finnish families, sequence capture was performed at the University of Washington using the Roche NimbleGen SeqCap EZ Human Exome Library v.2.0. For the Pakistani families, exome sequencing was performed at the University of Maryland and genomic libraries were recovered for exome enrichment using the Agilent SureSelect Human Expanded All Exon V5 (62 Mb) kit. For all exome data, alignment and variant calling were performed using Burrows-Wheeler Aligner^{49 (link)}and Genome Analysis Toolkit^{50 (link)}, respectively.
Sanger sequencing was used to confirm co-segregation of five PLG variants (NM_00301.3) identified in exome data from nine multi-ethnic families (Table 1). An additional 70 Coloradan trios, 246 Texan trios, 1 Finnish family, 2 Minnesota families, and 1 Pakistani family without exome data were Sanger-sequenced for the PLG variants.