# A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening

## TL;DR

This paper introduces a dataset to improve genetic carrier screening for diverse populations, ensuring equitable and accurate results across different ancestries.

## Contribution

The novel contribution is a dataset combining DNA variant data to optimize carrier screening panels for pan-ancestry and ancestry-specific populations.

## Key findings

- The dataset enables accurate calculation of carrier frequencies for autosomal recessive and X-linked conditions.
- It supports the creation of optimized gene panels that account for population-specific genetic variations.
- The dataset aids in modeling screening performance and improving equity in underrepresented genetic ancestries.

## Abstract

The data described in this publication supported the development and evaluation of pan-ancestry reproductive carrier screening panels for autosomal recessive (AR) and X-linked (XL) conditions.

Raw data included combined sets of DNA variants in 1,350 AR/XL genes obtained from the ClinVar and gnomAD databases. The dataset enabled calculations of positive yield for individuals and couples across both ancestry-specific and pan-ancestry, optimised "Goldilocks"-ranked gene panels, addressing population-specific variations in the frequencies of heterozygous individuals and carrier couples.

The positive yield analysis offered a performance metric for carrier screening panels, facilitating the modeling of screening performance for panels of varying sizes and composition and providing resources for optimizing panel content to ensure equity across underrepresented genetic ancestries

The dataset can support ongoing research into the equitable application of carrier screening and offers significant reuse potential for refining population genetic screening practices, validating computational models, and developing frameworks to update carrier screening panels in alignment with evolving genomic data, including in underrepresented and minority populations.