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Cornelis Blauwendraat on Muck Rack

Cornelis Blauwendraat

As seen in: Nature, Wiley Online Library, JAMA (The Journal of the American Medical Association), BioRxiv, Cell Press, The American Journal of Human Genetics, The Lancet, Neurology
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Articles

Haplotype-resolved DNA methylation at the APOE locus identifies allele-specific epigenetic signatures relevant to Alzheimer’s disease risk

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By Rylee Genner, Melissa Meredith, Kensuke Daida, Abraham G. Moller, Cory A. Weller, Alexis Ayuketah, Pilar Alvarez Jerez, Stuart Akeson, Laksh Malik, Breeana Baker, Cedric Kouam, Adam Catching, Xylena Reed, Stefano Marenco, Pavan K. Auluck, Benedict Paten, J. Raphael Gibbs, Miten Jain, Mark R. Cookson, Andrew Singleton, Cornelis Blauwendraat, Kimberley Billingsley, Kimberly Paquette, Sarah Bromberek, Fangle Hu, Ajeet Mandal
| Nature Verified
Abstract The APOE gene encodes a lipid transport protein central to Alzheimer’s disease (AD) pathogenesis. Three common alleles—ε2 (rs7412(C > T)), ε3 (reference), and ε4 (rs429358(T > C))—arise from two coding variants in exon 4 and confer distinct AD risk profiles, with ε4 increasing risk and ε2 being protective. The ε3-linked APOE variant rs769455[T] has also been associated with increased AD risk among individuals of African ancestry who also carry the APOE ε4 allele.
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iSCORE-PD: an isogenic stem cell collection to research Parkinson’s disease

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By Oriol Busquets, Hanqin Li, Khaja Mohieddin Syed, Pilar Alvarez Jerez, Riana Lo Bu, Yogendra Kr. Verma, Annika Martin, Yuxin Du, Steven W. Poser, Jessica Diaz, Atehsa Sahagun, Samantha Hong, Dena Hernandez, Kristin Levine, Nathalie Pochet, Marco Blanchette, Helen S. Bateup, Donald C. Rio, Cornelis Blauwendraat, Dirk Hockemeyer, Frank Soldner, Jesse Dunnack, Gabriella R. Pangilinan, Jannes Straub, Vivien M. Simon, Zipporiah Bush, Jianpu Gao, Ezgi O. Booth
| Nature Verified
Abstract Genome-edited human pluripotent stem cells (hPSCs) provide a powerful platform to study complex diseases such as Parkinson’s disease (PD). Here, we describe iSCORE-PD, an isogenic collection of 65 genome-edited hPSC lines carrying disease-causing or high-risk variants in 11 PD-linked genes (SNCA, PRKN, PINK1, DJ1/PARK7, LRRK2, ATP13A2, FBXO7, DNAJC6, SYNJ1, VPS13C, and GBA1). All lines are derived from a well-characterized female hESC line and subjected to extensive quality control.
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A new AI assisted approach aligns data standards and accelerates interoperability in biomedical research

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By Rodney Alan Long, Shannon Ballard Verified, Syed Anwar Shah, Owen Bianchi, Lietsel Jones, Mathew J Koretsky, Nicole Kuznetsov, Elise Marsan, Philip Chiang, Cornelis Blauwendraat, Hampton L. Leonard, Dan M. Vitale, Kristin Levine, Sara Bandrés-Ciga, Paige B Jarreau, Patrick Brannelly, Mukta Phatak, Caroline B Pantazis, Laurel A. Screven, Alifiya Kapasi, John F. Crary, David Gutman Verified, Brittany N. Dugger, Sarah A. Biber, Timothy J. Hohman, Faraz Faghri, Michael Griswold, Lana Sargent, Kendall Van Keuren-Jensen, Andrew Singleton, Yang C. Fann, Hirotaka Iwaki, Bryant Jen, Abhradeep Mukherjee, Kate Andersh
| Nature Verified
Abstract We demonstrate how Large Language Models (LLMs) accelerate biomedical data harmonization through automated Common Data Element (CDE) generation. We processed 31 datasets including clinical taxonomies and research data dictionaries through OpenAI’s Generative Pre-trained Transformer - 4 (API Model gpt-4-0613), generating comprehensive metadata for each element using a template-based system.
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