From f306a2365ebf2b219236696c019376f94da96289 Mon Sep 17 00:00:00 2001 From: Jon Belyeu Date: Fri, 1 May 2020 18:10:37 -0600 Subject: [PATCH] Update README.md --- README.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/README.md b/README.md index 61752ae..4550148 100644 --- a/README.md +++ b/README.md @@ -8,7 +8,7 @@ Unfazed identifies the parent of origin for de novo variants, accepting input fr ### Extended read-backed phasing Unfazed identifies 'informative sites' 5kb upstream or downstream from a de novo variant, using a VCF/BCF of SNVs for the trio (the child and both parents). These informative sites are variants inherited from the parents that allow identification of the origin of the read (maternal or paternal). -Informative sites must be heterozygous in the child and discernibly different in parents, specifically HOM_REF|HOM_ALT, HET|HOM_ALT, or HET|HOM_REF. These patterns allow identification of the parent of origin for the allele found at that site in each read spanning the region. +Informative sites must be HET in the child and discernibly different in parents, specifically HOM_REF|HOM_ALT, HET|HOM_ALT, or HET|HOM_REF. These patterns allow identification of the parent of origin for the allele found at that site in each read spanning the region. Extended read-backed phasing adds sensitivity by chaining reads together using mutually overlapped heterozygous sites, i.e. if two reads have the same allele for a given het site, those reads must come from the same parent. This allows the search distance from a given de novo variant to extend farther than possible with a single read pair.