• 28th February 2024

A BSGM 'Lunch and Learn' online session, bringing together members from across the Society to learn and discuss topics of interest to all.

 

Alistair Pagnamenta, senior postdoc at the Centre for Human Genetics (University of Oxford), will give a talk about his research on the impact of inversions and translocations from a national genome sequencing project.

 

Abstract
Structural variants such as inversions and balanced translocations can be challenging to detect/characterise using conventional methods and so the relative contribution of these variant classes towards genetic disease is unclear. Analysis of genome sequencing data for 33,924 families with rare-disease identified 47 ultra-rare rearrangements that included inverted segments of between 24bp and 36.4Mb in size. Of these, 20/47 had arisen de novo. Diagnostic odysseys were a common theme and targeted analysis for the specific gene had already been performed in 30%. RNAseq helped support the respective diagnoses for 6 families and included several types of effect. For two cases with complex SVs involving the MECP2 mutational hotspot, ambiguous SV structures were resolved using long-read sequencing, influencing clinical interpretation. In parallel, we assessed 100kGP participants previously known to harbour karyotypic abnormalities, short-read genome sequencing was able to resolve the precise breakpoints in >90%. In 50%, a strong candidate gene emerged, with several being followed up as part of GeneMatcher-facilitated collaborations. Additional complexity was present in a third. Reassignment of breakpoints to neighbouring cytogenetic bands in 93% of cases reflected missed opportunities for FISH testing of strong candidate genes.

All sessions will be recorded and available via the BSGM website for those unable to attend live.

If you are unable to attend and have any questions you would like to submit in advance please send them to Demetra Georgiou

We aim for this initiative to be genuinely useful to members and serve as a point of collegial conversation across professions and geographies; topics will be selected that are of broad interest and feedback is welcome as we develop the initiative.

 

Past events

For recordings of our previous talks in this series please see the BSGM website: Lunch and learn

Cost and booking

This event is free to attend and open to all BSGM members (ACGS/AGNC/CGS/CGG/FGG) as well as non-members. Advanced registration to watch live is essential through the event page and the Zoom meeting link will be circulated ahead of the event.

Instructions to register

Please log into mySociety (if you are not a member of the BSGM or its constituent groups, please create a free mySociety account with your name and email address). Then, click "events and conferences" where you will be able to book your place for this free event.

Contact

This event is being organised by the Royal Society of Biology for the BSGM. For any booking or website queries, please contact Beth Glynn-Ramsden at events@rsb.org.uk or on 020 3930 9927.

For any event queries, please contact Demetra Georgiou