Figure 1.

Overview of the selection of PLP variants

From left to right, variants were selected from two exome-sequencing cohorts of healthy individuals from two different European populations. Samples and variants were subjected to stringent quality control. Samples were filtered for kinship and ethnicity. Variants were filtered for quality and selected from consistently well-covered regions. For variant classification, variants were classified as PLP based on curated publicly available databases and/or on their predicted loss of function effect. For manual curation, we performed manual curation steps at both the gene and the variant level, to confirm the validity of our PLP classification selection process. Detailed information is in the subjects and methods and Figure S1.