From bfa34af9f3b81fbf0d13d21bfd8e25414d6c34a9 Mon Sep 17 00:00:00 2001 From: "Alex V. Kotlar" Date: Mon, 7 Oct 2024 11:28:15 -0400 Subject: [PATCH] Update perl/ANNOTATION.md Co-authored-by: cristinaetrv <24943967+cristinaetrv@users.noreply.github.com> --- perl/ANNOTATION.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/perl/ANNOTATION.md b/perl/ANNOTATION.md index 84b36c65d..49e63f1a6 100644 --- a/perl/ANNOTATION.md +++ b/perl/ANNOTATION.md @@ -46,7 +46,7 @@ Compared with the VCF format, Bystro's variant representation has the following SNPs: Unchanged -Insertions: The reference base is always the base just before the insertion, and the alternate allele is the inserted sequence, preceeded by a +. The position is the first affected base. +Insertions: The reference base is always the base just before the insertion, and the alternate allele is the inserted sequence, preceded by a +. The position is the first affected base. - For instance, if the VCF had POS: 1 REF: AT and ALT: ACCT, Bystro will represent this as inputRef: T, alt: +CCT, pos: 1, with the position the same as that in the VCF file, which is the first position of the reference base (the base just before the first inserted base). In Bystro's case there is only 1 reference base always, so the position is that of the only affected base.