SUPR
NDD genetics
Dnr:

sens2017613

Type:

SNIC SENS

Principal Investigator:

Kristiina Tammimies

Affiliation:

Karolinska Institutet

Start Date:

2018-01-18

End Date:

2025-02-01

Primary Classification:

30105: Neurosciences

Allocation

  • Castor /proj at UPPMAX: 20000 GiB
  • Cygnus /proj at UPPMAX: 20000 GiB
  • Castor /proj/nobackup at UPPMAX: 10000 GiB
  • Cygnus /proj/nobackup at UPPMAX: 10000 GiB
  • Bianca at UPPMAX: 30 x 1000 core-h/month

Abstract

Neurodevelopmental disorders (NDDs) are highly variable childhood phenotypes with high heritablity. We are investigating rare mutations in children with NDDs and how these rare mutations are connected to the cognitive proifiels, comorbid conditions and treatment outcome. We also aim at identifying new genes underlying broad range of NDDs. In specific projects, we also investigate somatic variants in NDD-discordant monozygotic twins. For this project we will use range of genomic analyses tools, such as Samtools, Plink, annovar, hail, CNVnator, BreakDancer, deNovoGear, Mutect, Varscan. Additionally, we will use multiple packages in R and scripting using Python. We will receive more patient WGS and WES data from SciLife core facilities.