The Portable Microhaplotype Object and Tools.

ABSTRACT:

Motivation

The rapid increase in the generation of targeted sequencing data offers immense potential for research, medicine, and public health, however the lack of an established standard for these data has led to disparate solutions for data storage. A widely accepted standard is essential for data sharing, reuse, and the coordinated development of interoperable analysis tools.

Results

We propose the Portable Microhaplotype Object (PMO), a standardized format for efficiently and losslessly storing phased targeted sequencing data (microhaplotypes). The PMO format is JSON-based, allowing efficient, relational storage of genetic data together with relevant metadata to minimize orphaned data. The format includes required fields and a curated set of optional fields leveraging es

SUBMITTER: Hathaway NJ 

PROVIDER: S-EPMC12713663 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature