This sample could be used as a troubleshooting tool in case the cell samples would yield no (or low) amounts of WGA product. The different WGA methods were compared to assess their suitability for downstream CNV analysis using shallow whole genome MPS (see other Material and Methods sections ...
Currently, much clinical screening for compound heterozygosity is done with exome sequencing, but we predict a shift towards WGS as costs drop. As the understanding and annotation of regulatory variants continues to improve, we will see an increasing number of reports of cis-acting regulatory ...