Search Results - Sun, Kathie Y.

Evolving approaches to the ethical management of genomic data by McEwen, Jean E, Boyer, Joy T, Sun, Kathie Y

“…Highlights ► Ethical, Legal, and Social Implications (ELSI) in the genomic era. ► Frameworks and policies to meet ELSI challenges. ► Privacy concerns and the…”
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POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity by Young, Matthew J, Humble, Margaret M, DeBalsi, Karen L, Sun, Kathie Y, Copeland, William C

“…Human mitochondrial DNA (mtDNA) is replicated and repaired by the mtDNA polymerase gamma, polγ. Polγ is composed of three subunits encoded by two nuclear…”
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Lung Cancer Mutation Profile of EGFR, ALK, and KRAS: Meta-Analysis and Comparison of Never and Ever Smokers by Chapman, Aaron M, Sun, Kathie Y, Ruestow, Peter, Cowan, Dallas M, Madl, Amy K

“…Highlights • Increased odds of EGFR in adenocarcinomas compared to non-small cell lung cancer. • Increased odds of ALK-EML4 in adenocarcinomas compared to…”
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The Ethical, Legal, and Social Implications Program of the National Human Genome Research Institute: Reflections on an Ongoing Experiment by McEwen, Jean E, Boyer, Joy T, Sun, Kathie Y, Rothenberg, Karen H, Lockhart, Nicole C, Guyer, Mark S

“…For more than 20 years, the Ethical, Legal, and Social Implications (ELSI) Program of the National Human Genome Research Institute has supported empirical and…”
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Bayesian modeling of skewed X inactivation in genetically diverse mice identifies a novel Xce allele associated with copy number changes by Sun, Kathie Y, Oreper, Daniel, Schoenrock, Sarah A, McMullan, Rachel, Giusti-Rodríguez, Paola, Zhabotynsky, Vasyl, Miller, Darla R, Tarantino, Lisa M, Pardo-Manuel de Villena, Fernando, Valdar, William

“…Abstract Female mammals are functional mosaics of their parental X-linked gene expression due to X chromosome inactivation (XCI). This process inactivates one…”
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The complexity of heterozygous POLG2 mutations associated with human mitochondrial disease by Young, Matthew J., Sun, Kathie Y., Humble, Maggie M., Copeland, William C.

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A deep catalogue of protein-coding variation in 983,578 individuals by Sun, Kathie Y., Bai, Xiaodong, Chen, Siying, Bao, Suying, Zhang, Chuanyi, Kapoor, Manav, Backman, Joshua, Joseph, Tyler, Maxwell, Evan, Mitra, George, Gorovits, Alexander, Mansfield, Adam, Boutkov, Boris, Gokhale, Sujit, Habegger, Lukas, Marcketta, Anthony, Locke, Adam E., Ganel, Liron, Hawes, Alicia, Kessler, Michael D., Sharma, Deepika, Staples, Jeffrey, Bovijn, Jonas, Gelfman, Sahar, Di Gioia, Alessandro, Rajagopal, Veera M., Lopez, Alexander, Varela, Jennifer Rico, Alegre-Díaz, Jesús, Berumen, Jaime, Tapia-Conyer, Roberto, Kuri-Morales, Pablo, Torres, Jason, Emberson, Jonathan, Collins, Rory, Cantor, Michael, Thornton, Timothy, Kang, Hyun Min, Overton, John D., Shuldiner, Alan R., Cremona, M. Laura, Nafde, Mona, Baras, Aris, Abecasis, Gonçalo, Marchini, Jonathan, Reid, Jeffrey G., Salerno, William, Balasubramanian, Suganthi

“…Rare coding variants that substantially affect function provide insights into the biology of a gene 1 – 3 . However, ascertaining the frequency of such…”
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Statistical Modeling of Parent-Of-Origin Effects and Allelic Imbalance in Genetically-Diverse, Reciprocal Mouse Crosses by Sun, Kathie Y

“…Mothers and fathers often affect their offspring in unequal ways, and particularly, in the expression of certain genes passed down in a parent-of-origin (PO)…”
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Embryonic and Neonatal Phenotyping of Genetically Engineered Mice by Kulandavelu, Shathiyah, Qu, Dawei, Sunn, Nana, Mu, Junwu, Rennie, Monique Y., Whiteley, Kathie J., Walls, Johnathon R., Bock, Nicholas A., Sun, John C. H., Covelli, Andrea, Sled, John G., Adamson, S. Lee

“…Considerable progress has been made in adapting existing and developing new technologies to enable increasingly detailed phenotypic information to be obtained…”
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