Hey Stagecoach East - you changed the timetable for the 905 AGAIN and didn’t update anything other than a PDF on an unreachable corner of the internet. The app nor Google has any idea that is has changed. Thanks for stranding us for an hour in Cambridge.

It would be nice if somebody could explain to me why BGEN has a gazillion different compression standards, floating point storage systems, and allele representations. At least I would know there was a reason for my madness.

Does anybody have a collection of “spurious genetic associations”? Like a pseudogene leading to odd LD or a segmental dupe leading to a fantastically large p. Value in a dubious sample size? Feel like this a paper that should have been published to save us all some grief…

No offence to the folks who do the wonderful blood cell count GWAS / ExWAS (I'm good friends with some of them!), but if I have to search through ~5 Billion blood cell count associations in GWAS Catalog to find something OTHER THAN blood cell count associations one more time...

Looking forward to #eshg2023 please drop me a msg if you’re going and keen to meet up science folks!

Hi folks – I'll be giving a talk at #eshg2023 in invited session S02 on my work into the relationship between constrained genes and fertility and it's implications for developmental disorders (nature.com/articles/s4158…). Come join me bright and early in Glasgow at 8:30 on Sunday!

Interesting talk at #eshg2023 from Susan Walker Genomics England highlighting the seemingly increased mutability of MECP2 for Structural Variants. Something we also observed in #DDD (sciencedirect.com/science/articl…). Crucial to look for these variants in suspected Rett Syndrome!

Analysis of UK Biobank genetic data finds nearly all women with variants thought to cause very early #menopause went through it at an older age. The results indicate it is caused by a combination of variants in many genes, and non-genetic factors. mrc-epid.cam.ac.uk/blog/2023/06/2… 🧵

New Cell Genomics paper by Lena Kaisinger et al identifies novel protein-coding gene variants with large effects on obesity risk in UK Biobank. Read 'Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity': doi.org/10.1016/j.xgen… (1/2)

Hey folks 👋- I’m excited to announce Adrestia Tx has been 💵 by Insmed! I’ve also been made Assoc. Director, Human Genetics and will be looking to grow our HumGen team! Contact me / John Perry (Head of HumGen) if you might be interested and watch this space!

Expanding the genetic landscape of obesity dlvr.it/Sv7bDp

Excited to represent Insmed Human Genetics at #ASHG2023 this year! We’re looking for motivated stat gen scientists to join our growing team, so please reach out for a chat or stop me if you see me walking around if you are interested!

Wife and I saw this in the first month we moved to the UK and told every American we knew several times we were so distressed. Still stayed here for another 6 years; very questionable behaviour on our part.

Using large scale genomic data from DDD, exome sequencing based #CNV calling demonstrates superior quality comparable to exon-level CMA in detecting pathogenic CNVs bit.ly/49AVorR Petr Danecek Eugene Gardner Matt Hurles #GIMO #CopyNumberVariation #exomesequencing #raredisease

I’m #hiring a new Asst. Princ. Sci. in the growing Human Genetics team Insmed, UK! We're looking for somebody with extensive experience in statistical genetics and use of advanced genetics / NGS methods for target ID 🎯. Feel free to DM or email me with any questions!

And now the actual job link…! eu-careers-insmed.icims.com/jobs/5897/assi…

I’m #hiring a new Stat Gen I in the growing Hum Gen team Insmed, UK. We're looking for stat gen experience to work in Synthetic Rescue and direct target ID 🎯. Folks w/ variant calling / NGS experience encouraged to apply! DM or 📧 me with Qs! 🤔 eu-careers-insmed.icims.com/jobs/5900/scie…

Join our expert panel of Jasmine Baker, Fritz Sedlazeck Eugene Gardner, & Gene Variant with moderator Ben Busby! to learn how they’re overcoming challenges related to structural variation in population-scale datasets. hubs.ly/Q02Ln7rd0

A new Senior Stat Gen role is now available in the Insmed human genetics team. Apply now! For this and other roles across multiple experience levels, see: linkedin.com/feed/update/ur…