Figure 1.

Pipeline of sequencing data analyses and functional assessment of variants. Shown are the analytical steps applied to identify high-quality, rare (MAF < 0.01) AMH variants from WGS and targeted resequencing data, as well as the molecular approach used to determine effects of AMH variants on downstream signaling activity. The ANNOVAR tool (for annotation of genetic variants) is detailed at http://annovar.openbioinformatics.org/en/latest/. CGA Tools are from CGI. CGI, Complete Genomics Inc.; CIDR, Center for Inherited Disease Research; qRT-PCR, quantitative reverse transcription polymerase chain reaction.