I have created a VCF file using the nf-core sarek / DeepVariant pipeline, which contains data for only one individual. I'm seeking guidance on how to perform phasing for this single-sample VCF file based on GRCh38.
I've explored options SHAPEIT5 with 1KG_GRCh38 but unfortunately, they do not seem to work for my scenario.
SHAPEIT5_phase_common -I vcf_by_chrom_chr1.vcf.gz -M chr1.b38.gmap -R chr1 -H ALL.chr1.shapeit2_integrated_snvindels_v2a_27022019.GRCh38.phased.vcf.gz -O vcf_by_chrom_chr1.phase.vcf.gz -T 10 --progress
[SHAPEIT5] phase_common (jointly phase multiple common markers)
* Author : Olivier DELANEAU, University of Lausanne
* Contact : olivier.delaneau@gmail.com
* Version : 5.1.1 / commit = 5.1.1 / release = 2023-05-16
* Run date : 26/12/2023 - 17:47:56
Files:
* Input : [vcf_by_chrom_chr1.vcf.gz]
* Reference : [ALL.chr1.shapeit2_integrated_snvindels_v2a_27022019.GRCh38.phased.vcf.gz]
* Genetic Map : [chr1.b38.gmap]
* Output : [vcf_by_chrom_chr1.phase.vcf.gz]
* Output format : [bcf]
Parameters:
* Seed : 15052011
* Threads : 10 threads
* MCMC : 15 iterations [5b + 1p + 1b + 1p + 1b + 1p + 5m]
* PBWT : [window = 4cM / depth = auto / modulo = auto / mac = 5 / missing = 0.1]
* HMM : [window = 4cM / Ne = 15000 / Recombination rates given by genetic map]
Reading genotype data:
* VCF/BCF scanning done (0.01s)
+ Variants [#sites=0 / region=chr1]
- 2754 sites removed in main panel [not in reference panel]
- 4 sites removed in main panel [multi-allelic]
ERROR: No variants to be phased!
my VCF has also AC and AN tags.
I appreciate any assistance or recommendations you can provide.
Dear shapeit5 Team,
I have created a VCF file using the nf-core sarek / DeepVariant pipeline, which contains data for only one individual. I'm seeking guidance on how to perform phasing for this single-sample VCF file based on GRCh38.
I've explored options SHAPEIT5 with 1KG_GRCh38 but unfortunately, they do not seem to work for my scenario.
my VCF has also AC and AN tags.
I appreciate any assistance or recommendations you can provide.
Happy New Year and thank you,
Nhu