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Brian J. O'Roak on Muck Rack

Brian J. O'Roak

Portland
As seen in: Nature, Wiley Online Library, BioRxiv, Spectrum
We study genomics, neuroscience, neurodevelopment and its disorders, such as autism. My goal is develop interventions based on one's genetics. My own thoughts.
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Articles

Detailed phenotyping of Tbr1‐2A‐CreER knock‐in mice demonstrates significant impacts on TBR1 protein levels and axon development

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By Marissa Co, Grace O'Brien, Kevin Wright, Brian J. O'Roak
| Wiley Online Library Verified
CONFLICT OF INTEREST STATEMENT The authors declare no competing financial interests. Supporting Information Filename Description aur3271-sup-0001-Figures.pdfPDF document, 9.3 MB Data S1. Figures. aur3271-sup-0002-TableS1.xlsxExcel 2007 spreadsheet , 10.2 KB Table S1. Oligonucleotides used in this study. REFERENCES , , , , , , & (2022). Aberrant glial activation and synaptic defects in CaMKIIα-iCre and nestin-Cre transgenic mouse models. Scientific Reports, 12, 22099. , , , , , , & (2022).
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Detailed phenotyping of Tbr1-2A-CreER knock-in mice demonstrates significant impacts on TBR1 protein levels and axon development

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By Marissa Co, Grace O'Brien, Kevin Wright, Brian J. O'Roak
| BioRxiv
Abstract Spatiotemporal control of Cre-mediated recombination has been an invaluable tool for understanding key developmental processes. For example, knock-in of Cre into cell type marker gene loci drives Cre expression under endogenous promoter and enhancer sequences, greatly facilitating the study of diverse neuronal subtypes in the cerebral cortex.
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A general framework for estimating the relative pathogenicity of human genetic variants

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By Martin Kircher, Brian J. O'Roak, Daniela M Witten, Preti Jain
| Nature Verified
Current methods for annotating and interpreting human genetic variation tend to exploit a single information type (for example, conservation) and/or are restricted in scope (for example, to missense changes). Here we describe Combined Annotation–Dependent Depletion (CADD), a method for objectively integrating many diverse annotations into a single measure (C score) for each variant.
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