Showing posts with label australia. Show all posts
Showing posts with label australia. Show all posts

Saturday, 15 March 2025

A genome assembly and annotation for the Australian alpine skink Bassiana duperreyi using long-read technologies.

Hanrahan BJ, Alreja K, Reis ALM, Chang JK, Dissanayake DSB, Edwards RJ, Bertozzi T, Hammond JM, O’Meally D, Deveson IW, Georges A, Waters P & Patel HR (accepted): A genome assembly and annotation for the Australian alpine skink Bassiana duperreyi using long-read technologies. G3 jkaf046, DOI: 10.1093/g3journal/jkaf046 [G3] [PubMed]

Abstract

The eastern three-lined skink (Bassiana duperreyi) inhabits the Australian high country in the southeast of the continent including Tasmania. It is a distinctive oviparous species because it undergoes sex reversal (from XX genotypic females to phenotypic males) at low incubation temperatures. We present a chromosome-scale genome assembly of a Bassiana duperreyi XY male individual, constructed using PacBio HiFi and ONT long reads scaffolded using Illumina HiC data. The genome assembly length is 1.57 Gbp with a scaffold N50 of 222 Mbp, N90 of 26 Mbp, 200 gaps and 43.10% GC content. Most (95%) of the assembly is scaffolded into 6 macrochromosomes, 8 microchromosomes and the X chromosome, corresponding to the karyotype. Fragmented Y chromosome scaffolds (n=11 > 1 Mbp) were identified using Y-specific contigs generated by genome subtraction. We identified two novel alpha-satellite repeats of 187 bp and 199 bp in the putative centromeres that did not form higher order repeats. The genome assembly exceeds the standard recommended by the Earth Biogenome Project; 0.02% false expansions, 99.63% kmer completeness, 94.66% complete single copy BUSCO genes and an average 98.42% of transcriptome data mappable to the genome assembly. The mitochondrial genome (17,506 bp) and the model rDNA repeat unit (15,154 bp) were assembled. The B. duperreyi genome assembly has high completeness for a skink and will provide a resource for research focused on sex determination and thermolabile sex reversal, as an oviparous foundation species for studies of the evolution of viviparity, and for other comparative genomics studies of the Scincidae.

Wednesday, 20 November 2024

Adventures in genome assembly curation and QC

It was great to have the opportunity to present some recent - and not so recent - work today to the Australian BioCommons Genomics Community meeting. You can find a link to the recording here, and the slides are up here if you missed it and are curious. I’ll add some additional links to the tools discussed with time.

One of the highlights of my time in Australia has been the awesome bioinformatics and genomics (and other) communities. I’ve been lucky to meet and work with so many awesome scientists and fantastic human beings.