Skip to content

MNP multi-allelic site merge losing depth/AD information? #326

Description

@yttria-aniseia

from a larger WGS analysis, a multiallelic site output where i was unable to recover useful depth or VAF information

deepvariant gvcf:

chr13	87627866	.	GTATACACATA	G,<*>	8.7	PASS	.	GT:GQ:DP:AD:VAF:PL	0/1:6:22:6,16,0:0.727273,0:7,0,7,990,990,990
chr13	87627873	.	C	T,<*>	4.1	PASS	.	GT:GQ:DP:AD:VAF:PL	0/1:3:3:0,3,0:1,0:0,0,4,990,990,990

i see

  • del record with DP=22; AD=6,16,0
  • overlapping record with DP=3; AD=0,3,0

after glnexus

chr13	87627866	chr13_87627873_C_T;chr13_87627866_GTATACACATA_G	GTATACACATA	GTATACATATA,G	11	.	AF=0.684211,0.184211;AQ=11,11;AC=1,1;AN=2	GT:DP:AD:GQ:PL:RNC:PF	1/2:3:.,3,16:3:0,0,0,0,0,0:..:TR_OVERLAP
  • multiallelic record with DP=3; AD=.,3,16

taking min DP here is... unexpected, but ignoring that, i would still want AD to sum to 22...

GLnexusConfig
{unifier_config: {drop_filtered: false, min_allele_copy_number: 1, min_AQ1: 0, min_AQ2: 0, min_GQ: 0, max_alleles_per_site: 32, monoallelic_sites_for_lost_alleles: true, preference: common}, genotyper_config: {revise_genotypes: false, min_assumed_allele_frequency: 9.99999975e-05, snv_prior_calibration: 1, indel_prior_calibration: 1, required_dp: 1, allow_partial_data: true, allele_dp_format: AD, ref_dp_format: MIN_DP, output_residuals: false, more_PL: true, squeeze: false, trim_uncalled_alleles: true, top_two_half_calls: false, output_format: BCF, liftover_fields: [{orig_names: [MIN_DP, DP], name: DP, description: "##FORMAT=", type: int, number: basic, default_type: missing, count: 1, combi_method: min, ignore_non_variants: true}, {orig_names: [AD], name: AD, description: "##FORMAT=", type: int, number: alleles, default_type: zero, count: 0, combi_method: min, ignore_non_variants: false}, {orig_names: [GQ], name: GQ, description: "##FORMAT=", type: int, number: basic, default_type: missing, count: 1, combi_method: min, ignore_non_variants: true}, {orig_names: [PL], name: PL, description: "##FORMAT=", type: int, number: genotype, default_type: missing, count: 0, combi_method: missing, ignore_non_variants: true}]}}
IGV read view Image

Metadata

Metadata

Assignees

No one assigned

    Labels

    No labels
    No labels

    Type

    No type

    Projects

    No projects

    Milestone

    No milestone

    Relationships

    None yet

    Development

    No branches or pull requests

    Issue actions