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Obtaining FIR Boundaries on GEDmatch using Phased and "My Evil Twin" Phased Kits

12/4/2016

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The formatting of the blog posting may be odd if you are reading this in a Feed Reader or via e-mail distribution, so click on the title above (which is an active link) to view the website version.
Since my blog posting last month, Obtaining FIR Boundaries on GEDmatch using the Little Tick Marks, GEDmatch has introduced a new Tier 1 tool, known as "My Evil Twin" Phasing, which makes it much easier to obtain the boundaries for FIRs (fully-identical regions) if at least one child's results are available; this is used in combination with the normal phasing tool.
Child's Phased Kits Defining FIRs
Figure 1: Using a Child's Phased and "My Evil Twin" Phased Kits to Identify FIR Boundaries in a Parent (GEDmatch One-to-One Comparisons)
Figure 1 shows one-to-one comparisons on GEDmatch for Chromosome 1:
  • Panel (A) is the comparison between my mother and my maternal aunt (full-siblings), showing there are 2 FIRs, the green bars labeled FIR (1) and FIR (2). The table above the graphic gives the boundaries for the HIRs (half-identical regions), the blue bars, but not for the green FIR bars.
  • Panel (B) is the comparison between my maternally-phased kit and my maternal aunt. This shows that my phased kit provides the end location of my mother's/aunt's FIR (1) at 37,435,730 (black line 1) and the end location of my mother's/aunt's FIR (2) at 186,250,473 (black line 3).
  • Panel (C) is the comparison between my maternally-phased "evil twin" kit and my maternal aunt. This shows that "my evil twin" phased kit provides the start location of my mother's/aunt's FIR (2) at 156,185,705 (red line 2).
Before the availability of the "my evil twin" phasing tool, I could only use this method to obtain some of the start and end locations using my normal phased kit (and my sister's phased kit could be used for some, but not all, of the remainder) – but with the new "my evil twin" phasing tool, this method can be used for all of the parent/sibling FIRs.

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