By default, read bases that match the reference are displayed in gray. Read bases that do not match are color coded, and insertions and deletions within reads relative to the reference are marked. Insertions are indicated by a purpleI (
) and deletions are indicated with a black dash (–). In addition, mismatched bases are assigned a transparency value proportional to the read quality known as the phred score. This has the effect of de-emphasizing low quality reads.
然后再来一个练习=》两个相邻的SNPs
第一步:定位到chr21:19,479,237-19,479,814
首先最明显的就是两个杂合子(heterozygous variants),另外结合dnSNP数据库(我们之前利用file=>load from server=>dbsnp1.4.7)可以看到右边👉的杂合子G/T可以对应到数据库(rs982274 );左边的杂合子C/T并没有对应到数据库