We are a research group focused on rare disease genomics. Our lab is located within the Genomic Medicine Center at Children's Mercy Kansas City, and affiliated with University of Missouri Kansas City and Kansas University Medical Centers.
Mapping the disease impacts of rare DNA variation using patient and population-scale multiomics. We develop and apply computational and statistical tools to uncover pathogenic variants in undiagnosed rare diseases. We work with multi-disciplinary researchers, patients and families within the Genomic Answers for Kids program at Children's Mercy Hospital. Our lab uses genomic data (short- and long-read), bulk and single-cell functional profiles, and phenotypic resources from across the spectrum of human diseases in both differentiated and pluripotent cellular contexts. These insights - drawn from clinical samples to population-scale biobanks - allow us to pinpoint causal disease genes, pathways, and regulatory mechanisms underlying rare disease phenotypes, enabling expanded patient genome assessment.
2024
Our paper on complex trait polygenic score associations in rare diseases and implications for Mendelian variant interpretation is now published.
Congratulations to Marissa - her paper on single-cell transcriptomic signatures underlying pediatric IBD subtypes is now published.
Congratulations to Cory (UMKC Bioinformatics student in the lab), who presented an outstanding thesis defense - and passed!
Our pre-print on mapping the landscape of structural variants PacBio HiFi long-read WGS in known and novel rare disease genes in now available on medRxiv. Congratulations to Cas! Also check out GA4K SV Finder to query/download long-read SV allele frequencies across 1,566 individuals.
What are some of the ways RNA-sequencing will continue to advance rare disease diagnosis? Check out our new review in Annual Review of Genomics and Human Genetics here.
2023
Our pre-print on sub-typing pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencing is now available on medRxiv. Congrats to Marissa!
The Smail Lab is heading to DC for ASHG '23. Check out Marissa's plenary talk "Modeling and characterizing development of transposition of the great arteries using patient-derived iPSC cardiac organoids" (11/1 at 6:50-7:10PM in Ballroom ABC/Level 3) and Cas's platform talk "Integrating polygenic scores and long-read genome sequencing to identify clinically-relevant structural variants in rare diseases" (11/5 at 10:15-10:30AM in Room 207A/Level 2). Congratulations to both!
We are welcoming Cory Yeager to the lab! Cory is a Masters student in Bioinformatics at UMKC who will complete his thesis project while in the lab.
2022
We are delighted to welcome Cas LeMaster to the lab! Cas joins us as a Bioinformatics Scientist. Welcome!
NoA received from NIGMS for our R35 MIRA grant on non-Mendelian pediatric rare disease genomics.
NoA received from NHGRI for our R21 grant on novel approaches for relating genetic variation to function and disease.
Lab news in the press! genomeweb, "Polygenic Risk Score Performance Improved With Expression-Related Rare Variant Insights".
Our GTEx paper on identifying large-effect rare coding and non-coding variants in complex disease using outlier gene expression is published in AJHG - congrats to all co-authors!
2021
Craig is selected as the 2021 Marion Merrell Dow/Ed Connolly Research Scholar - an endowment funding pediatric genomic research to find answers, treatments, and cures for childhood illness and disease.
We are delighted to welcome Marissa Keever (current doctoral candidate at University of Illinois at Urbana-Champaign), who will join the lab as a Postdoctoral Research Scholar this summer - welcome Marissa!
Lab news in the press! Nature Reviews Genetics, "Stem cells root out genetic variants".
Our i2QTL Consortium hiPSC manuscript is now published in Nature Genetics - congrats to all co-authors!
2020
October 2020: The Smail Lab has opened at the Genomic Medicine Center at the Children's Mercy Research Institute, Children's Mercy Hospital 🎉
We gratefully acknowledge external funding provided by:
