HAT: de novo variant calling for highly accurate short-read and long-read sequencing data
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Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.01.27.525940v1?rss=1

Authors: Ng, J. K., Turner, T. N.

Abstract: Motivation: de novo variant (DNV) calling is challenging from parent-child sequenced trio data. We developed Hare And Tortoise (HAT) to work as an automated workflow to detect DNVs in highly accurate short-read and long-read sequencing data. Reliable detection of DNVs is important for human genetics studies (e.g., autism, epilepsy). Results: HAT is a workflow to detect DNVs from short-read and long read sequencing data. This workflow begins with aligned read data (i.e., CRAM or BAM) from a parent-child sequenced trio and outputs DNVs. HAT detects high-quality DNVs from short-read whole-exome sequencing, short-read whole-genome sequencing, and highly accurate long-read sequencing data. Availability: https://github.com/TNTurnerLab/HAT Contact: [email protected] Supplementary information: Supplementary data are available at bioRxiv.

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