HLA-SPREAD: A comprehensive resource for HLA associated diseases, drug reactions and SNPs across populations

2021 
Extreme complexity in the HLA system and its nomenclature makes it difficult to interpret and integrate relevant information for HLA associations with diseases, Adverse Drug Reactions (ADR), Transplantation. PubMed search displays ~110,000 studies on Human Leukocyte Antigens (HLA) reported from, diverse locations and on multiple populations and IPD-IMGT/HLA database houses data on 28,320 HLA alleles till date. We developed an automated pipeline with a unified graphical user interface HLA-SPREAD that provides a structured information on SNPs, Populations, REsources, ADRs and Diseases information. Information on HLA was extracted from ~24 million PubMed abstracts extracted using Natural Language Processing (NLP). Python scripts were used to mine and curate information on diseases, filter false positives and categorize to 24 tree hierarchical groups and named Entity Recognition (NER) algorithms and semantic analysis to infer HLA association(s). This resource from 116 countries and 47 ethnic groups provides interesting insights on: markers associated with allelic/haplotypic association in autoimmune, cancer, viral and skin diseases, transplantation outcome and ADRs for hypersensitivity. Summary information on clinically relevant biomarkers related to HLA disease associations with mapped susceptible/risk alleles are readily retrievable from HLASPREAD. This resource is first of its kind that can help uncover novel patterns in HLA gene-disease associations.
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