Craig Smail

Exciting news! Dr. Elin Grundberg is the new Division Director of Genomic Medicine. 🎉
A leader in disease genomics and epigenomics, she brings strong NIH-funded research and a passion for collaboration and mentorship. Congrats, Dr. Grundberg!

Expanded map of genomic imprinting reveals insight into human disease https://www.medrxiv.org/content/10.1101/2025.09.15.25335770v1

Genomic Medicine Short Course June 6-9, 2022 | This conference will provide clinician-scientists and researchers with a deeper understanding of genomics and its applications. The 2022 course will be offered both virtually and in-p...

Great course by our friends at children’s mercy who are amongst leaders in genomic medicine.

Still time to register and fellowship opportunities:

www.childrensmercy.org/childrens-me...

Sad to hear of Paul Kulesa's passing. Paul was a pioneering scientist in neural crest cell biology with labs at Stowers, Notre Dame and CMRI. I will remember most Paul's generosity in sharing his time, expertise, and wisdom with junior colleagues like myself. brossspidlemonuments.com/index.php/20...

Sequencing by Expansion (SBX) — a novel, high-throughput single-molecule sequencing technology Remarkable advances in high-throughput sequencing have enabled major biological discoveries and clinical applications, but achieving wider distribution and use depends critically on further improvemen...

www.biorxiv.org/content/10.1...

Illumina workshop at #AGBT25 presenting data on new spatial tech platform. Average of ~500 genes per cell, did anyone catch anything about total unique genes across all cells per sample?

HiFi sequencing for rare disease research at Children’s Mercy - PacBio Dr. Tomi Pastinen shares how his team uses PacBio sequencing in pediatric rare disease research, with the goal of shaping the future of clinical care.

In honor of #RareDiseaseDay this month, learn how #PacBio HiFi sequencing is transforming the #RareDisease landscape for researchers like @childrensmercy.org.

Blog here: bit.ly/3XbaMa7

Haplotype rather than single causal variants effects contribute to regulatory gene expression associations in human myeloid cells Genome-wide association studies typically identify hundreds to thousands of loci, many of which harbor multiple independent peaks, each parsimoniously assumed to be due to the activity of a single cau...

www.biorxiv.org/content/10.1...

Might explain some of the discrepancies between QTL effect & personalized gene expression prediction performance by S2F models

ARPA-H RAPID proposers day in SF scheduled for tomorrow just cancelled an hour ago citing travel restrictions on HHS personnel. Many (like me!) have already arrived.

Treating All the Not-So-Rare “Rare Disease” Patients at Major Care Centers | Behind the Breakthroughs Tomi Pastinen [Children's Mercy Kansas City]

Podcast with Tomi Pastinen, Director of Genomic Medicine Center here at Children's Mercy Hospital outlining our recent and ongoing work in rare diseases within the Genomic Answers for Kids (GA4K) study

shows.acast.com/behind-the-b...

Northern lights and plough/big dipper over Hawick, Scotland tonight

Faculty Member in Computational Medicine University of California, Los Angeles is hiring. Apply now!

Friends,

We are hiring! My department (Computational Medicine) has an open rank faculty position search this year! I know we are late to the party, but please consider applying!

Feel free to ask question here.

recruit.apo.ucla.edu/JPF09935

Now in KC at Children’s Mercy Hospital working within the GA4K initiative, where we are applying multiomic approaches to rare variant interpretation for the discovery of new genomic mechanisms underlying rare diseases.

Always interested in chatting about collaborations and/or research ideas!

From Scotland 🏴󠁧󠁢󠁳󠁣󠁴󠁿 to California 🇺🇸 and Stanford University working on rare variants underlying extreme molecular and disease phenotypes in differentiated tissues (GTEx), development (i2QTL) & in rare diseases (UDN, Stanford Center for Undiagnosed Diseases). Also happy memories hiking the Sierra Nevada.

The journey begins in the Scottish Borders, a rural area of rolling fields and rugged peaks which is often windy and rainy but always beautiful.

Then north to Edinburgh University working on bioinformatics pipelines and statistical methods for large-scale biological data.

👋 So great to see so many friends and colleagues here. Would love to connect with others working in human genomics 🧬, or in science broadly.

A short thread on background and research interests 👇 #FirstPost