Open moldach opened 4 years ago
I would like to use BreakSeq2 but am unsure of how to create a breakpoint library for other model organisms; specifically C. elegans.
BreakSeq2
It's unclear from the documentation how a breakpoint library (either as FASTA or GFF) was created for humans.
I have used {MindTheGap} which creates a file.breakpoints file of detected insertion sites.
file.breakpoints
The file looks like this:
[moldach@cdr767 BreakSeq2]$ head $BREAKPOINTS >bkpt3_I_pos_221157_fuzzy_3_HOM left_kmer TGAAATTGCCATTTCGACTGTGGCAGAGCCC >bkpt3_I_pos_221157_fuzzy_3_HOM REPEATED right_kmer ACGAAGAGCGTCGTGGATTCGGTGAGCTTCT >bkpt4_I_pos_232103_fuzzy_4_HET left_kmer CGGGCCATTTGGGTCGCGGCCGGTCTGGGGG >bkpt4_I_pos_232103_fuzzy_4_HET right_kmer GCTGGGCCCGTACTTCCTGGGAAGTTGAGAA >bkpt6_I_pos_256855_fuzzy_0_HOM left_kmer AATTTTCATCTGAAAATTTAGTACTGAAATC
Looking at the .gff Breakpoints Library for humans looks much different:
.gff
[moldach@cdr767 BreakSeq2]$ head breakseq2_bplib_20150129.gff 1 1KG_Phase1 Deletion 766594 769112 . . . 1 1KG_Phase1 Deletion 776770 791881 . . . 1 1KG_Phase1 Deletion 869385 870317 . . . 1 1KG_Phase1 Deletion 912049 913594 . . . 1 1KG_Phase1 Deletion 947122 948001 . . . 1 1KG_Phase1 Deletion 1086818 1087023 . . . 1 1KG_Phase1 Deletion 1142720 1143140 . . . 1 1KG_Phase1 Deletion 1443564 1445764 . . . 1 1KG_Phase1 Deletion 1465912 1466230 . . . 1 1KG_Phase1 Deletion 1598414 1598580 . . .
Can the breakpoint information from MindTheGap be converted to a format that will work with breakseq2? If not, which tool(s) can be used to generate this information?
MindTheGap
breakseq2
I would like to use
BreakSeq2
but am unsure of how to create a breakpoint library for other model organisms; specifically C. elegans.It's unclear from the documentation how a breakpoint library (either as FASTA or GFF) was created for humans.
I have used {MindTheGap} which creates a
file.breakpoints
file of detected insertion sites.The file looks like this:
Looking at the
.gff
Breakpoints Library for humans looks much different:Can the breakpoint information from
MindTheGap
be converted to a format that will work withbreakseq2
? If not, which tool(s) can be used to generate this information?