This package creates personal genomes for alignment of samples with known genetic variation, converts coordiantes of files aligned to the personal genome back to GRCh38, and counts alleles of the known variants.
Personal Genomes Requires
- python (>=3.9.12)
- numpy (>=1.20.3)
- pysam (>=0.15.3)
- Use
write_genome_and_all_vcf.py
to create a personal genome. - Align fasta files to the personal genome.
- Use
convert_to_hg38.py
to convert SAM file from personal genome coordinates to GRCh38 coordinates. - Sort reads in the GRCh SAM file.
- Use
count_alleles.py
to count alleles of known variants in the sorted SAM file.