Fast Numerical Optimization for Genome Sequencing Data in Population Biobanks biorxiv.org/content/10.110…

Proud to see our #openaccess manuscript describing hard to find, clinically relevant structural variants AJHG! cell.com/ajhg/fulltext/… Thanks to our collaborators and OF COURSE the #DDD familes – our work would not be possible without their confidence.

Read our paper on the exome sequencing of 454,787 UK Biobank participants, published in nature. Our scientists continue to push the boundaries of genomics. Their work lights up our genome!

Will be interesting to see how the CHIP prevalence estimates (and phenotypic associations) differ from the Regeneron team's preprint given the different CHIP filtering strategies. medrxiv.org/content/10.110…

Obesity and adiposity have opposing genetic impacts on human blood traits biorxiv.org/content/10.110…

Thanks for the shoutout Siddhartha Jaiswal! And super cool TCL1A/PACER paper with @J__Stock et al.

A paternal bias in germline mutation is widespread across amniotes and can arise independently of cell divisions biorxiv.org/content/10.110…

Go get you some impression of the 🇺🇸🇮🇹powerhouse Carmelo Gurnari today on germline mutations! A wonderful line up of presentations with Anna Brown Michael D. Kessler Fernanda Gutierrez-Rodrigues. Carmelo is an astonishing scientist! Im honored to call him my friend and part of The EBMT Trainee Committee🙏

Thanks, Kelly Bolton MD PhD - the commentary makes many important points and is really excellent overall!

Hi Kyle Burbank—Money@30 - I wanted to ask you a question regarding one of your ebooks (which looks great btw). Any chance you're open to DMs/email? Thanks.

Veera Rajagopal  The phenotypic analysis reported is conceptually flawed. As Michael D. Kessler & Regeneron Genetics Center reported in their 2022 @nature paper, CH driver genes have distinct phenotypic consequences. #CHIP is not the same thing as deCODE's #CH which includes mCAs and LoY x.com/AlexBickMDPhD/…

For the purpose reproducibility and historical preservation, I am releasing today idat2gtc, a tool that replaces Illumina's AutoCall, allowing IDAT files from DNA microarrays to be processed, provided a cluster file is available github.com/freeseek/gtc2v… 7/8

Vote is cast. Nothing to do but wait. On to Denver for #ASHG24 … catching up with new science and old friends. I’m #hiring. Keen to make new friends interested in relocating to the NY area to develop tools and methods to help human genetics scale. DM me. 1/3