HDAM

HDAM aggregates and standardizes mutation data from next-generation sequencing (NGS) studies to support analysis of disease-associated human genetic variation.

Key Features:

• Comprehensive Mutation Collection: Compiles 1,114 mutations in 669 genes associated with 125 human diseases, derived from literature mining of NGS studies.
• Standardized Annotation: Represents all mutation records using Human Genome Variation Society (HGVS) nomenclature for unequivocal sequence-change descriptions.
• Detailed Mutation Information: Records include genomic locations mapped to hg18 and hg19, gene functional annotation, protein domain annotation, associated diseases, and the first literature report for each mutation.
• Predictive Analysis: Implements Bayesian network analysis to predict novel mutation–disease relationships not explicitly documented in the source literature.
• Curated Data Source: Maintains a rigorously curated dataset to ensure consistent and reliable mutation annotations for research use.

Scientific Applications:

• Comparative mutation analysis: Enables cross-study comparison of standardized mutation descriptions across NGS-derived datasets.
• Gene–disease relationship analysis: Supports analysis and interpretation of associations between specific mutations, genes, and human diseases.
• Prioritization for functional studies: Provides curated, annotated mutations to guide selection of variants for experimental validation.
• Target identification for therapeutics: Informs the development and prioritization of targeted therapeutic strategies by linking mutations to disease annotations.

Methodology:

Mutation extraction via literature mining of NGS studies, standardization using HGVS nomenclature, and prediction of mutation–disease relationships using Bayesian network analysis.