AlphaGenome: batch_variant_scoring : what is the best SNP of interest ?
Hi all,
I've got a set of interesting variants in a VCF file and I wanted to use alphagenome ( https://deepmind.google/blog/alphagenome-ai-for-better-understanding-the-genome/ ) to get a score. After calling the API for each variant, I get a large number of metrics for each variant. Looks like:
variant_id scored_interval gene_id gene_name gene_type gene_strand junction_Start junction_End output_type variant_scorer track_name track_strand Assay titleontology_curie biosample_name biosample_type biosample_life_stage data_source endedness genetically_modified transcription_factor histone_mark gtex_tissue raw_score quantile_score
chr123:12345715190:C>CT chr123:12345190902-134239478:. ATAC CenterMaskScorer(requested_output=ATAC, width=501, aggregation_type=DIFF_LOG2_SUM) CL:0000084 ATAC-seq . ATAC-seq CL:0000084 T-cell primary_cell adult encode paired False -0.0057604313 -0.28066123
chr123:12345715190:C>CT chr123:12345190902-134239478:. ATAC CenterMaskScorer(requested_output=ATAC, width=501, aggregation_type=DIFF_LOG2_SUM) CL:0000100 ATAC-seq . ATAC-seq CL:0000100 motor neuron in_vitro_differentiated_cells adult encode paired False -0.007056713 -0.22671121
chr123:12345715190:C>CT chr123:12345190902-134239478:. ATAC CenterMaskScorer(requested_output=ATAC, width=501, aggregation_type=DIFF_LOG2_SUM) CL:0000236 ATAC-seq . ATAC-seq CL:0000236 B cell primary_cell adult encode paired False -0.00051677227 -0.092026785
chr123:12345715190:C>CT chr123:12345190902-134239478:. ATAC CenterMaskScorer(requested_output=ATAC, width=501, aggregation_type=DIFF_LOG2_SUM) CL:0000623 ATAC-seq . ATAC-seq CL:0000623 natural killer cell primary_cell adult encode paired False -0.004648924 -0.2699999
chr123:12345715190:C>CT chr123:12345190902-134239478:. ATAC CenterMaskScorer(requested_output=ATAC, width=501, aggregation_type=DIFF_LOG2_SUM) CL:0000624 ATAC-seq . ATAC-seq CL:0000624 CD4-positive, alpha-beta T cell primary_cell adult encode paired False -0.001062274 -0.11485085
chr123:12345715190:C>CT chr123:12345190902-134239478:. ATAC CenterMaskScorer(requested_output=ATAC, width=501, aggregation_type=DIFF_LOG2_SUM) CL:0000625 ATAC-seq . ATAC-seq CL:0000625 CD8-positive, alpha-beta T cell primary_cell adult encode paired False -0.00072705746 -0.10345244
chr123:12345715190:C>CT chr123:12345190902-134239478:. ATAC CenterMaskScorer(requested_output=ATAC, width=501, aggregation_type=DIFF_LOG2_SUM) CL:0000787 ATAC-seq . ATAC-seq CL:0000787 memory B cell primary_cell adult encode paired False -0.0006222725 -0.080576845
chr123:12345715190:C>CT chr123:12345190902-134239478:. ATAC CenterMaskScorer(requested_output=ATAC, width=501, aggregation_type=DIFF_LOG2_SUM) CL:0000788 ATAC-seq . ATAC-seq CL:0000788 naive B cell primary_cell adult encode paired False 0.0007699728 -0.023067882
chr123:12345715190:C>CT chr123:12345190902-134239478:. ATAC CenterMaskScorer(requested_output=ATAC, width=501, aggregation_type=DIFF_LOG2_SUM) CL:0000792 ATAC-seq . ATAC-seq CL:0000792 CD4-positive, CD25-positive, alpha-beta regulatory T cell primary_cell adult encode paired False -0.0018496513 -0.16011412
(...)
I'm a bit lost here (and the documentation is not clear to me) as there are 4620 distinct 'track_name'.
(...)
usage_UBERON:0011907 total RNA-seq
usage_UBERON:0012249 gtex Cervix_Ectocervix polyA plus RNA-seq
usage_UBERON:0013756 gtex Whole_Blood polyA plus RNA-seq
usage_UBERON:0015143 total RNA-seq
usage_UBERON:0018115 polyA plus RNA-seq
usage_UBERON:0018116 polyA plus RNA-seq
usage_UBERON:0018117 polyA plus RNA-seq
usage_UBERON:0018118 polyA plus RNA-seq
usage_UBERON:0036149 gtex Skin_Not_Sun_Exposed_Suprapubic polyA plus RNA-seq
usage_UBERON:0036149 total RNA-seq
how can I find the most 'interesting variant' whatever is the variant_scorer/track_name ? should I aggregate the data in some way ? which metrics should I use raw_score ? quantile_score ? can I use those metrics among all the type of analysis ?
thanks, P.
• 342 views
•
link
0 answers
No answers yet.
Log in to answer this question.