Figure 1 | Journal of Human Genetics

Figure 1

From: HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

Figure 1

Summary of our procedures. Positions of candidate variants with top five statistics for Pt250 are shown as an example of how our approach works. Among these five positions, position 1 refers to the known pathogenic variant in the QRSL1 gene. Upper box: How to calculate HDR between two individuals, for example, between case and a control, where n refers to number of variants. Middle box: Step 1 procedure (prescreening). Lower box: Step 2 procedure (prioritization).

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