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1) For the alignment of the human whole exome sequence FASTA data to the human GRCh38p14 reference genome, and using the Isaac aligner V4, do you recommend:
unmasked genome reference ?
masked genome reference ?
reference with hs38d1 decoy sequence included ?
2) Please define how the human reference genome sequences are masked for best use with Isaac aligner V4 and human exome FASTA alignment ?
is it a soft mask ?
is it a hard mask ?
3) For the alignment of the human whole genome sequence FASTA data to the human GRCh38p14 reference genome, and using the Isaac aligner V4, do you recommend:
unmasked genome reference ?
masked genome reference ?
reference with hs38d1 decoy sequence included ?
4) To mark and remove PCR duplicates from the BAM file generated from either human exome or human whole genome FASTA, what parameters are set with Isaac aligner V4:
Option 1:
--keep-duplicates 1 or --keep-duplicates 0
OR
Option 2:
--mark-duplicates 1 or --mark-duplicates 0
1) For the alignment of the human whole exome sequence FASTA data to the human GRCh38p14 reference genome, and using the Isaac aligner V4, do you recommend:
2) Please define how the human reference genome sequences are masked for best use with Isaac aligner V4 and human exome FASTA alignment ?
3) For the alignment of the human whole genome sequence FASTA data to the human GRCh38p14 reference genome, and using the Isaac aligner V4, do you recommend:
4) To mark and remove PCR duplicates from the BAM file generated from either human exome or human whole genome FASTA, what parameters are set with Isaac aligner V4:
Option 1:
--keep-duplicates 1 or --keep-duplicates 0
OR
Option 2:
--mark-duplicates 1 or --mark-duplicates 0