Our scientists have contributed to a global effort to identify two genes that cause a rare type of hereditary #epilepsy Nature Communications 1/3  nature.com/articles/s4146…   nature.com/articles/s4146…

ExpansionHunter Denovo is a game-changer for repeat expansion discovery! Great work from Egor Dolzhenko Mark Bennett Phillip A Richmond Melanie Bahlo Mike Eberle and team!

Agreed! Fantastic collaboration

Specialised tools developed by our bioinformaticians to hunt for hard-to-detect ‘repeat expansions’ in DNA have helped to identify the genetic cause of a rare epilepsy, as part of an international effort Nature Communications Haloom Rafehi Mark Bennett Melanie Bahlo wehi.edu.au/news/new-genet…

One of our collaboration papers: CYLD is causative for MND/ALS & FTD: protect-au.mimecast.com/s/0IVcCXLW2mU4…. Work was led by Dr Carol Dobson-Stone, includes Mark Bennett and Neil Rajan.

Delighted to announce that our work identifying a new frontotemporal dementia -motor neuron disease gene, CYLD, has finally been published in Brain! #FTD #ALS #MND academic.oup.com/brain/article-…

The TTTCA repeat in SAMD12 was first identified in Japanese patients with myoclonic epilepsy.  This study identifies the same genomic variant in Sri Lankan and Indian families. A shared haplotype suggests the expansion arose almost 17 000 years ago in a common ancestor.

Pleased to present ExpansionHunter Denovo, a catalog-free computational method for repeat expansion detection in WGS datasets. Hopefully, deploying this method across undiagnosed cases can help end the #diagnosticOdyssey of some #rareDisease patients. genomebiology.biomedcentral.com/articles/10.11…

This work is proof that team science and collaboration, even when it spans 3 continents and several timezones, is a major driver of innovation. I'm lucky to collaborate and learn from talented scientists, especially co-authors Egor Dolzhenko and Mark Bennett.

I'm delighted to say that our paper on ExpansionHunter Denovo just came out. Great work by Egor Dolzhenko Mark Bennett and Phillip A Richmond. Please give it a try if you are looking to discover novel pathogenic repeat expansions in your cohort or pedigree. genomebiology.biomedcentral.com/articles/10.11…

Thank you @CUREepilepsy for supporting Dr Mark Bennett’s research into the genetic causes of epilepsy. The Taking Flight Award enables Mark to extend his bioinformatics research into epilepsy undertaken w Melanie Bahlo & Epilepsy Research: wehi.edu.au/news/illuminat…

Congrats to @DrDJSheerin and Dr. Joanne Hildebrand - winners of the 2021 Eve Mahlab Awards for Blue Sky Research, and to Mark Bennett as People's Choice winner. These awards fund the most exciting and promising research ideas from our talented #WEHIPostdocs. Congrats all! 👏👏👏

1/ New preprint up! superSTR is an alignment-free method for screening short tandem repeats in NGS and RNA-seq data with @melaniebahlo and Mark Bennett. biorxiv.org/content/10.110… Most STR detection methods look for STRs in an alignment.

Trying to wrap your head around the genetics of epilepsy? Dr Mark Bennett (Mark Bennett) from WEHI (Walter and Eliza Hall Institute) will be talking to the ESA yesILAE group about some of the 'basics' of genetics in epilepsy - Wed 29 Sept @ 5.30PM AEST 🧬 #epilepsy #genetics

New bioinformatics position at the Epilepsy Research Centre, University of Melbourne, working closely with the Bahlo lab at WEHI. Come work with us! Fantastic team and lots of exciting epilepsy genetics research to be a part of!