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Chunk #29 — METHODS — Parental Origin Assignment

Source
Parental origin of sequence variants associated with complex diseases.
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yes

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Let H be a haplotype for a tile T. For a particular proband, f(T,H) and m(T,H) were calculated as respectively the meiotic distance to the closest relative on the father side and the mother side known to carry H. Descendants of the parents of the proband, e.g. siblings of the proband, were excluded for this calculation. Also, a value of 10,000 was assigned when no relatives carrying the haplotype was found. Let A and B be the two phased haplotypes of the proband. The single-tile score for parental origin was calculated as score(T,A,B)=score(T,A)−score(T,B)=(log[1−2−m(T,A)]−log[1−2−f(T,A)])−(log[1−2−m(T,B)]−log[1−2−f(T,B)]). A score that is > 0 supports the assignment of A as the paternally inherited haplotype and B as the maternally inherited haplotype, while a score < 0 supports the reverse. While not meant to be optimal in any formal sense, this scoring was chosen to have two properties. Firstly, for the same absolute difference between m(T,H) and f(T,H), the absolute value of score(T,H) is higher when the minimum of m(T,H) and f(T,H) is smaller, thus giving more weight to situations when a close relative who shared