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Nature Genetics – Jan 2025
Vollger et al. (2025) Synchronized long-read genome, methylome, epigenome, and transcriptome profiling resolve a Mendelian condition Simultaneous profiling of the genome, methylome, epigenome, and transcriptome using single-molecule chromatin fiber sequencing and multiplexed arrays isoform sequencing identifies the genetic and molecular basis of an undiagnosed Mendelian disease case with an X;13-balanced translocation. Our multi-omics approach revealed…
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International Genetic Epidemiology Society – Nov 2024
Dr. Blue received a Certificate of Appreciation from IGES at the annual meeting in recognition of her service on the Board of Directors and fundraising leadership. Concluding her term on the Board, she now serves on the Scientific Program Committee. Interested in supporting IGES? You can buy a shirt and make a direct donation here:…
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Rare – Aug 2024
Blue et al. (2024) Dual Diagnosis of UQCRFS1-related Mitochondrial Complex III Deficiency and recessive GJA8-related Cataracts We describe the relationship between consanguinity, multi-system disease, and multiple genetic diagnoses of rare disease for a single proband. This report highlights the implementation of both genome sequencing and proteomics to increase diagnostic yield and early diagnosis. We demonstrate…
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National Human Genome Research Institute – Apr 2024
Dr. Blue was an invited speaker and panel discussant on the use of race, ethnicity, and ancestry in genomics research at the annual meeting of the NHGRI Research Training and Career Development Meeting, April 7 – 9, 2024 in Seattle, WA.
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Alzheimer’s & Dementia: Translational Research & Clinical Interventions – Mar 2024
Xue, Blue, Conomos, Fohner (2024) The power of representation: Statistical analysis of diversity in US Alzheimer’s disease genetics data We determined the available array and sequencing data for US studies of Alzheimer’s disease (AD) by reported race and ethnicity, then simulated the statistical power of these datasets to identify risk variants comparable to those found…
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UW School of Medicine Faculty Spotlight on Dr. Blue
Dr. Blue provides an overview of her background, research, and community outreach. Click Here to Read More.
