SUPR
GMS RD long-read WGS and targeted
Dnr:

sens2022541

Type:

SNIC SENS

Principal Investigator:

Malin Melin

Affiliation:

Uppsala universitet

Start Date:

2022-05-24

End Date:

2024-06-01

Primary Classification:

30107: Medical Genetics

Webpage:

Allocation

  • Castor /proj/nobackup at UPPMAX: 30000 GiB
  • Cygnus /proj/nobackup at UPPMAX: 30000 GiB
  • Castor /proj at UPPMAX: 10000 GiB
  • Cygnus /proj at UPPMAX: 10000 GiB
  • Bianca at UPPMAX: 15 x 1000 core-h/month

Abstract

Short-read NGS is widely used nowadays in clinical diagnostics to identify disease-causing variants. While this method is useful for a variety of variant types, it has clear shortcomings regarding complex regions in the human genome. In this national project, Genomic Medicine Sweden aims to investigate the potential of long-read based methods for detection of variants causing rare diseases.