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Very happy that our postdoctoral fellow Archana Rai as a PCGC/CDDRC fellow presented her findings regarding the digenic variants in patients with laterality defects in three large cohorts NIH NHLBI UTHealth Houston School of Public Health

#DRAGEN is now out in Nature Biotechnology . We outline the method, which has been benchmarked and also analyzed using the 1KGP cohort. It demonstrates accuracy and scalability through graph genome and machine learning approaches. nature.com/articles/s4158…

Developmental delay, intractable itching, and elevated bile acids? Think WDR83OS-related trichohepatoneurodevelopmental syndrome! Congrats to all co-authors including Reza Maroofian, Jennifer Posey, and many others. sciencedirect.com/science/articl…

Our joint work with Carvalho lab Claudia M Carvalho regarding systematic investigation of chromosomal inversions across diverse datasets is online in medRxiv Tugce Bozkurt GREGoR Consortium UTHealth Houston School of Public Health Pacific Northwest Research Institute medrxiv.org/content/10.110…

Our lab luncheon!!! UTHealth Houston School of Public Health

It is so nice to have our paper out on the Rare Disease Day that performs a large scale analysis of inversions across diverse datasets! Many congratulations to the first author Tugce Bozkurt and Claudia M Carvalho lab and GREGoR Consortium nature.com/articles/s4143…

Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay dlvr.it/TKsVQg

This preprint is now out after peer review! Check it out: cell.com/cell-genomics/… Huge congrats (and thanks!) to the whole team that contributed!

It was such a great experience to work with Suja and her team to uncover one of the non-canonical rules of NMD. GREGoR Consortium Simons Foundation nhlbi.nih.gov/science/trans-…