The year … The 1878s A View From The Bullens

Every year we open r pub in NewBrighton on Xmas day 12-4pm &serve dinner free of charge to anyone who wants to come in. Pubs serve the community that they are in, nobody should be alone. Families r also welcome - we also have toys and hampers. Happy Xmas from r Rockpoint team. ❤️

ClinGen Variant Curation Expert Panel recommendations are now displayed on gene pages. Clicking on the name of the expert panel/disease opens a modal with a link to the full recommendations in the ClinGen Criteria Specification (Cspec) Registry. pic.x.com/UnU9xsez6S

LBC This guy can go first, with all those medals the Russians would just walk off the battlefield 😂😂

In a Silent way was the third Miles CD I bought. Kind of Blue took a few listens to get under my skin, like a lot of great jazz. But In a Silent Way was totally immediate and my mind was blown.

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

For the last 14 years as an NHS doctor, I have watched this party, these governments, savage the NHS into a crumbling shell of a once great institution. Deliberate, calculated, shameless destruction. Only one thing to say. Please, if you still want an NHS, do not vote Tory.

Dr Rachel Clarke This morning I spent £500 on urgent treatment I‘ve previously had on NHS for my chronic condition, current wait would be 4-6 months, during Labour I waited around 2 weeks after my GP referred each time. We need a landslide, get the Tories out for 3 terms.

*******IMPORTANT ****** If you intend to vote but you're away, below is the link to register for a postal vote. If you're home from Uni, register at your home address. gov.uk/apply-postal-v…

Birmingham’s longest serving MP, Steve McCabe, announces he’s standing down.

youtu.be/YHesqaMhh34?si… One of the greatest LPs of all time for me. Always sounds different …ageless and sublime

Quentin Letts v Feargal Sharkey. Today Quentin Letts insulted Feargal Sharkey on TV. Lets see what people think of him. RT if Quentin Letts is a jumped up little sh*t. Like if Sharkey's great.

Hey! Why not come and buy it from a shop that has it in stock!!! 😀 ie: us...

Excited to share our latest paper, where we describe ITSN1 as a novel risk gene for Parkinson's disease! We found that rare loss-of-function variants are associated with a 10-fold increased odds of PD. As far as we know, this is the largest effect size reported for sporadic PD

Essential reading - cheers Caroline and team 👏👏👏

As part of GREGoR Consortium , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods. authors.elsevier.com/c/1jcDA3vlFV4E…

In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: medrxiv.org/content/10.110…

This is terrible news for his biggest fans, Julia Hartley-Brewer and Isabel Oakeshott.

The Rare and Inherited Disease NHS Genomic Network of Excellence are holding an inaugural workshop event on Wednesday 6th November in London, where participants will learn more about the network and opportunities for involvement in their work.🧵

Hello - I’m leaving this cesspit and have emigrated to bluer skies. See you on the other side wherever that may be Dom McMullan 💙 xxx youtu.be/8MKoVpm0ZS0?si…