Table 2.

Long range sequencing and mapping platforms.

Platform	General characteristic	Key features for the determination of SVs	Limitations for the determination of SVs
Long reads sequencing (Oxford Nanopore Sequencing, PacBio SMRT sequencing)	Single-molecule long read sequencing averaging ∼10 k	Single reads spanning whole SV or its break points	Large quantities of high molecular weight DNA High error rate
BioNano Genomics optical mapping	Optical mapping of long DNA reads ∼250 kb or longer	Single molecule spanning structural variants > 10 kb	Does not provide a nucleotide-level resolution of breakpoints
10X Genomic Chromium	Linked short reads spanning ∼100 kb	Linked reads spanning ∼100 kb can detect large SV variants > 10 kb	Unable to identify complex inversions
Hi-C based analysis	Pairs of short reads formed from crosslinking chromatin interactions	Chromatin contact maps determining large SV with reads spanning breakpoints and reads located nearby the breakpoints	Limited in detecting SVs within 1 MB scale Does not provide a nucleotide-level resolution of breakpoints
Strand-Seq	Single-cell/single-strand genome sequencing	Possible to identify, haplotypes and h genomic rearrangements including complex inversions	High cost and demanding procedure (the protocol requires viable mitotic cells)

PacBio SMRT, Pacific Biosciences single-molecule real time.