SUPR
Investigation of rare genetic disorders
Dnr:

NAISS 2024/22-121

Type:

NAISS Small Compute

Principal Investigator:

Maria Wilbe

Affiliation:

Uppsala universitet

Start Date:

2024-02-02

End Date:

2025-03-01

Primary Classification:

30107: Medical Genetics

Webpage:

Allocation

Abstract

This project serves as a complement to our ongoing project on Bianca where we using NGS data analyze rare genetic disorders in humans. The primary goal is to facilitate the software installation process and data downloads from e.g. GitHub to Bianca through Rackham, ensuring that the latest tools for long-read sequencing data analysis can be used on our datasets. The project may occasionally be utilized for analyses on non-sensitive NGS data such as transcriptome data from e.g. a zebrafish model for a disorder.