Excited to share a new publication in Genome Medicine, collaboration with Color led by Julian Homburger. Low coverage whole genome seq enables accurate assessment of common variants and calc of polygenic scores genomemedicine.biomedcentral.com/articles/10.11… cc: Sek Kathiresan MD Alicia Zhou, PhD @CynthiaNeben

After being told of BRCA1 mutation, up to 50% women opt for prophylactic mastectomy Should this be so? For "monogenic" forms breast ca, colorectal ca, & heart attack, we find polygenic background powerfully modifies risk New on medRxiv medrxiv.org/content/medrxi…

Super excited about the results of this analysis, led by Akl Fahed + @Wallace00498752 + Julian Homburger. Clear that future of genome interpretation warrants integrated assessment of monogenoc and polygenic drivers of inherited risk.

A @bioRxivpreprint showing how polygenic risk scores influence penetrance of monogenic diseases (like #BRCA), by Amit V. Khera Sek Kathiresan MD and colleagues attracts interest @sciencemagazine science.sciencemag.org/content/366/64… w/ Pete Kraft David H Ledbetter (he/him) UK Biobank Color

What's it like to be a geneticist? A thread, based on stock photos sampled from the internet. We begin with an image of a state-of-the-art genetics lab in action. Notice all the flasks & tubing filled with blue liquid, & the smart matching attire of these everyday researchers.1/n

On our blog today, Color data scientist Julian Homburger takes the basics of genetics and sequencing further, explaining some of the more complicated components that enable the delivery of meaningful and accurate results. blog.color.com/genetics-201-t…

You know this all started when Tom Brady left the Patriots... 🤷‍♂️

We are partnering with Alameda County Health and the West Oakland Health Clinic to expand COVID-19 testing access to the Oakland community with a free testing site. Read more about how this site is part of the county’s ongoing effort to address testing disparities: color.com/covid-19-testi…

We have been seeing some fascinating data coming through our COVID-19 testing (THREAD) color.com/new-covid-19-t…

Just waiting for a date in kangaroo court

Excited to share our work demonstrating how frequent testing with expedient turn around time can help turn the tide on outbreaks and protect organizations

A lot of work has focused on modeling large groups - here we focus on small groups (such as an office or school) and see how testing can affect outbreaks - we've also built a tool where you can compare results from many approaches on your own: color.com/covid-19-outbr…

Our latest Nature Communications paper by Julian Homburger, Amit V. Khera and @Broadinstitute illustrates how the interplay between monogenic variants and polygenic risk can significantly affect the likelihood of developing certain diseases. Read more: color.com/color-discover…

Many assume all patients with high-risk DNA mutations — such as familial hyperchol mutations for heart attack — will develop disease But some remain healthy ‘Polygenic background’ one important reason why Press release: bit.ly/2EkAqDI Paper: go.nature.com/3hePocV

Was this common behavior before the pandemic? Is this like the physicists and parties? theatlantic.com/family/archive…

A lot of people are going to be learning how to carve a turkey today

Have you ever wanted to work in polygenic scores with some of the best in the field? Amit V. Khera is hiring! Anyone who is looking to work in an amazing lab CGM at MGH and Broad Institute with some amazing people, please apply! You will not regret it.

We're thrilled to share our manuscript "Small-molecule inhibition of GYS1 for the treatment of Pompe disease and other glycogen storage disorders,” featured as the cover story of the latest Science Magazine. Congrats to our team on this exciting research! science.org/doi/10.1126/sc…