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This repository was archived by the owner on Apr 20, 2026. It is now read-only.
This repository was archived by the owner on Apr 20, 2026. It is now read-only.

Questions about how to use this aligner #21

Description

@jazybio

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

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