Ehsan Ullah, Ph.D.

ALT Screenshot of Figure 3: Hypothesis testing for observed versus expected SLC3A1 and SLC7A9 double heterozygote frequencies. The figure contains DH frequencies (both observed and calculated/expected proportions), their corresponding z-scores, and their P values to illustrate the one-sample proportion hypothesis testing. The black line of the bell curve represents the standard z-score distribution for proportion testing. The blue line represents the calculated/expected DH frequency (frequency = 4.94 × 10−5, z = 0). The green line represents the observed DH (frequency = 0, z = −0.353). The green shading represents the area-under-the-curve for observed DH, which corresponds to an observed P value of .362. The red line indicates the cutoff of 5% tail (z = −1.645). The red dashes indicate the area-under- the-curve for the 5% cutoff to reject the null hypothesis (P = .05). DH, double heterozygote.

ALT Screenshot of Figure 2: Sankey figures summarizing the classification changes between the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP 2015) guidelines and the point system for unique variants with discordant calls. A. Unique variants with discordant classifications between the ACMG/AMP 2015 guidelines and the point system that have harbored the original evidence codes. B. Unique variants with discordant calls between the 2 scoring methods that have at least 1 modified evidence code strength.