SUPR
sens2017_FHTG_exome
Dnr:

sens2017120

Type:

SNIC SENS

Principal Investigator:

Hong Jiao

Affiliation:

Karolinska Institutet

Start Date:

2017-11-16

End Date:

2024-12-01

Primary Classification:

30206: Cardiac and Cardiovascular Systems

Webpage:

Allocation

  • Castor /proj at UPPMAX: 30000 GiB
  • Cygnus /proj at UPPMAX: 30000 GiB
  • Castor /proj/nobackup at UPPMAX: 10000 GiB
  • Cygnus /proj/nobackup at UPPMAX: 10000 GiB
  • Bianca at UPPMAX: 20 x 1000 core-h/month

Abstract

The project "Finding new forms of monogenic hyperlipidemia through metabolic phenotyping" aims at discovering disease-causing genes in individuals with monogenic hyperlipidemia that have been extensively characterized both based on pedigree analysis and on detailed metabolic studies. The samples contain DNA from healthy individuals or individuals with well defined forms of familial hypercholesterolemia where known genetic causes of the phenotypes have been excluded. 16 samples are to be sequenced: two samples per lane, totally eight lanes.