School of Medical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Australia
26th-28th April 2017
Macgregor S et al.,: Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island. Eur J Hum Genet. 2010; 18: 67–72.
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, Donia Macartney-Coxson, Nicole White, Daniel Kennedy, Heidi Sutherland, Larisa Haupt, Kerrie Mengersen, Lyn Griffiths
Allele-specific methylation (ASM): same cytosine is differentially methylated on the two alleles of a diploid organism
ASM is a major mechanism of genomic imprinting (aberrations can lead to disease)
*once wrangled into shape scripts will be accessible via GitHub
Fang F, et al.,: Genomic landscape of human allele-specific DNA methylation. PNAS, 2012; 109: 7332–7.
Krueger F, et al.,: SNPsplit: Allele-specific splitting of alignments between genomes with known SNP genotypes. F1000Research, 2016; 5: 1479.
Documented and predicted human imprinted loci are displayed in darkred.
ASM plot of chromosome 20 for a nuclear family (father, mother, son, daughter)
|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)