Overview of HISAT2’s indexes and alignment output
(a) Hierarchical indexing in the hierarchical graph FM
index (HGFM). Hierarchical indexing consists of two types of indexes: (1) a
global index that represents the entire human genome and (2) 55,172 overlapping
local indexes that collectively cover the genome plus all variants. When both
are graph FM indexes, a genome plus a large collection of variants can be
searched simultaneously. (b) A repeat index represents genomic
sequences that are identical. (c) A read matching repeat sequences
(e.g., Read3 and Read4) is aligned to just one
location (the repeat sequence). (d) The corresponding genomic
locations of repeat aligned reads are retrieved via APIs.