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MicroHapDB: A Portable and Extensible Database of All Published Microhaplotype Marker and Frequency Data.

Daniel S Standage¹, Rebecca N Mitchell¹

¹National Bioforensic Analysis Center, National Biodefense Analysis and Countermeasures Center (NBACC), Frederick, MD, United States.

Frontiers in Genetics

|August 28, 2020

Summary

Microhaplotypes offer a powerful forensic DNA tool for human identification and ancestry inference. A new database, MicroHapDB, centralizes marker data and population frequencies to aid forensic applications.

Keywords:

Python bioinformatics database forensics human identification microhaplotype next generation sequencing

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Area of Science:

Forensic genetics
Population genetics
Genomic databases

Background:

Microhaplotypes, comprising closely linked SNPs, are emerging as versatile forensic DNA markers.
They enable simultaneous genotyping and phasing of SNPs within a single next-generation sequencing (NGS) read.
Current challenges include fragmented data and lack of comprehensive population allele frequencies for marker development.

Purpose of the Study:

To introduce MicroHapDB, a centralized database for published microhaplotype marker and frequency data.
To provide population allele frequencies for 26 global populations for all known microhaplotype markers.
To facilitate the development and interpretation of microhaplotype-based forensic tools.

Main Methods:

Compilation of published microhaplotype marker data.
Generation of population allele frequencies using samples from 26 diverse populations.
Database development for efficient data retrieval and analysis.

Main Results:

MicroHapDB consolidates existing microhaplotype information, addressing a critical data gap.
Population allele frequency data is now available for a wide range of microhaplotype markers across global populations.
The database supports the design and evaluation of custom microhaplotype panels.

Conclusions:

MicroHapDB serves as a vital resource for the forensic science community.
The provided population data empowers researchers in marker discovery, assay development, and panel design.
This resource advances the application of microhaplotypes in human identification, ancestry inference, and other forensic analyses.