MicroHapDB

MicroHapDB aggregates microhaplotype marker definitions and population allele frequency data to support forensic genetics analyses using multi‑SNP markers genotyped and phased by next‑generation sequencing (NGS).

Key Features:

• Marker compilation: Compiles published microhaplotype marker definitions composed of multiple single nucleotide polymorphisms (SNPs) in close genomic proximity.
• Allele frequency aggregation: Aggregates population allele frequencies derived from 26 global samples.
• Comprehensive coverage: Encompasses all published microhaplotype markers to date.
• NGS suitability: Represents markers suited for simultaneous genotyping and phasing through next‑generation sequencing (NGS).
• Forensic panel support: Facilitates design and evaluation of custom multi‑source multiplex NGS panels for forensic applications.
• Analytical scope: Supports analyses relevant to human identification, mixture deconvolution, ancestry inference, and phenotype prediction as alternatives or complements to short tandem repeat (STR) markers.
• Research utility: Provides data useful for marker discovery, population genetic studies, assay development, and panel and kit design.

Scientific Applications:

• Human identification: Enables individual identification using microhaplotype genotypes as an alternative or complement to STR markers.
• Mixture deconvolution: Aids deconvolution of DNA mixtures by leveraging multi‑SNP phased haplotypes.
• Ancestry inference: Supports inference of biogeographic ancestry from population allele frequency patterns.
• Phenotype prediction: Contributes allele frequency and marker data for phenotype‑associated analyses using multiplex NGS assays.
• Marker discovery and population studies: Facilitates discovery and characterization of microhaplotype markers across populations.
• Assay and panel design: Informs assay development and the design of multiplex panels and forensic kits.

Methodology:

Compiles marker definitions and allele frequencies from published studies and aggregates population frequencies from 26 global samples; markers are represented as multi‑SNP microhaplotypes suited for genotyping and phasing by next‑generation sequencing (NGS).