Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project biorxiv.org/cgi/content/sh… #biorxiv_genomic

Integrative machine learning approaches for predicting disease risk using multi-omics data from the UK Biobank

Manuel Rivas #Genomics #MachineLearning

biorxiv.org/content/10.110…

Genome sequencing of healthy people finds 2-5% unknowingly harbor important, actionable, disease- causing gene mutations. A new report Mount Sinai Health System adds to previous studies
cell.com/cell-reports-m… Iain S. Forrest, PhD Icahn School of Medicine at Mount Sinai Ron Do

A study of machine learning techniques for Automated Karyotyping System

#Genomics #Cytogenetics #MachineLearning

biorxiv.org/content/10.110…

In MoneyWeek, I explain how mRNA technology is transforming the fight against cancer. 🧬
Thanks to advances in #GenomicSequencing and increased investment in mRNA, we could be 5-6 years away from new therapies hitting the market.
Read more, here. 👉bit.ly/3UlQ0DJ

Not many years ago we had no treatments vs KRAS driver mutations for cancer. Considered undruggable. Now look!
nature.com/articles/s4159…
Nature Medicine Eileen M O’Reilly Memorial Sloan Kettering Cancer Center

This time next week we have our next Genomics Café 11-12:45pm via Zoom. We have four brilliant talks lined up, and registration is free - Sign up for the zoom link here: rb.gy/yfrybx/ And don't forget to bring a cuppa whilst we chat genomics🧬☕️Genomics Partnership Wales (GPW)

RNA vs DNA, what's the difference?
Read the latest Genomics 101 blog to find out 🧬

ow.ly/76JE50Rg0BC

#DNA #RNA

Good news for Biomedical Scientists in #genomics labs and early career Biomedical Scientists looking to enter the exciting field! ACGS

#NGS data analysis is challenging! We sought advice from several experts in the field to find best practices for sequencing data management. See the whole chapter by downloading the free >100-page report here: hubs.la/Q02sBGtp0

Our friends at the IFBLS are celebrating 'International Biomedical Laboratory Science Day' so we want to say THANK YOU to biomedical scientists around the world, the guardians of quality & patient safety. #BiomedicalScience #IFBLS

Very pleased to share our latest manuscript:

'Public preferences for pharmacogenetic testing in the NHS: Embedding a discrete choice experiment within service design to better meet user needs'

Published today in British Pharmacological Society's BJCP journal.

bpspubs.onlinelibrary.wiley.com/doi/full/10.11…

Details now available of the Scientist Training Programme (STP) locations/employers available for 2024. nshcs.hee.nhs.uk/programmes/stp…

Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases - data from The North West Genomic Laboratory Hub

Emma Woodward

jmg.bmj.com/content/early/…

⏪Reanalysing historical arrayCGH data identifies new diagnoses⏪

Copy number losses overlap with disease genes that have been discovered since the time of first analysis

George Burghel - جورج برغل Siddharth Banka Jake ⓥ Miller Jonathan Edgerley Chris Watt Ronnie Wright The North West Genomic Laboratory Hub

pubmed.ncbi.nlm.nih.gov/38604752/

The Genomics Training Academy is hiring! A new faculty role has just opened. If you are an experienced bioinformatician, we would love to hear from you. Read the details here: buff.ly/4aN9pCK
#NHSgtac #bioinformatics #careers #STEM

A mind-blowing discovery of a noncoding region in the human genome that might be holding the answer that 1000s of parents around the world with a child with a neurodevelopmental disorder (NDD) have been patiently waiting for years.

A recurrent de novo noncoding single base pair

How can ctDNA revolutionize cancer monitoring? James Hadfield will explore its use in detecting minimal residual disease at #FOGBoston . Want to learn more? Register now: hubs.la/Q02r2pVF0

We're excited to announce that the third phase of our ctDNA pilot in the South East is live! 👏

Join us on Wed April 17th to hear how your hospital can get involved
Sign up 👉bit.ly/49y12ds

#lungcancer #ctDNA #ThinkGenomics

Applications for NHS Digital Academy Digital Health Leadership Programme Cohort 7 are now open.

The programme is open to leaders in health and care who are responsible for driving transformational change.

Find out more and join an application support webinar: digital-transformation.hee.nhs.uk/digital-academ…