Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Australia
9-12th October 2016
Benton MC et al.,: “Mutiny on the Bounty”: the genetic history of Norfolk Island reveals extreme gender-biased admixture. Investigative Genetics 2015, 6:11.
Other contributors: Rod Lea, David Eccles, Donia Macartney-Coxson, Heidi Sutherland, Larisa Haupt, Lyn Griffiths
© 2016 Illumina, Inc.
108 core-pedigree members
Illumina HiSeq X10 at the Garvan Institute
Decent amount of data (David Eccles)
QUT HPC facility
*Functional = predicted to be damaging in 5 in-silico tests (SIFT, POLYPHEN2, MUTATIONTASTER, PROVEAN, MUTATION ASSESSOR)
There is a higher than usual prevalence of Glaucoma on NI, we explored the WGS data for associated variants
Predicted as deleterious/damaging
Gene has been previously associated with Retinoblastoma and Wilson's disease (copper deposits around the cornea)
Other contributors: Rod Lea, Donia Macartney-Coxson, Nicole White, Daniel Kennedy, Heidi Sutherland, Larisa Haupt, Kerrie Mengersen, Lyn Griffiths
Documented and predicted human imprinted loci are displayed in darkred.
ASM plot of chromosome 20 for a nuclear family (father, mother, son, daugther)
|QUT||STDOI @ UTRGV
||Donia Macartney-Coxson (ESR)
||David Eccles (Gringene Bioinformatics)
||Geoff Chambers (VUW)|
|...the rest of the GRC IHBI lab group|
|Garvan Institute of Medical Research / Kinghorn Centre for Clinical Genomics||Melanie Carless (Texas Biomedical Research Institute)||NHMRC|
Claire Bellis (Genome Institute of Singapore)
Greg Gibson (Georgia Institute of Technology, USA)