Search Results - "Schork, Nicholas J."

Comparison of phasing strategies for whole human genomes by Choi, Yongwook, Chan, Agnes P, Kirkness, Ewen, Telenti, Amalio, Schork, Nicholas J

“…Humans are a diploid species that inherit one set of chromosomes paternally and one homologous set of chromosomes maternally. Unfortunately, most human…”
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Statistical analysis strategies for association studies involving rare variants by Schork, Nicholas J, Bansal, Vikas, Libiger, Ondrej, Torkamani, Ali

“…Key Points We review the motivation for exploring the role of rare variants in phenotypic expression. There are several problems with capturing the effects of…”
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Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk by Bloss, Cinnamon S, Schork, Nicholas J, Topol, Eric J

“…In this study, subjects were assessed before and after receiving results of direct-to-consumer genomewide profiling to assess disease risk. Receipt of the…”
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Human genetic variation and its contribution to complex traits by Frazer, Kelly A, Murray, Sarah S, Schork, Nicholas J, Topol, Eric J

“…The last few years have seen extensive efforts to catalogue human genetic variation and elucidate its relationship to phenotypes, especially disease. Important…”
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Pentadecanoic Acid (C15:0), an Essential Fatty Acid, Shares Clinically Relevant Cell-Based Activities with Leading Longevity-Enhancing Compounds by Venn-Watson, Stephanie, Schork, Nicholas J

“…Pentadecanoic acid (C15:0) is an essential odd-chain saturated fatty acid with broad activities relevant to protecting cardiometabolic, immune, and liver…”
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Single-nucleus and single-cell transcriptomes compared in matched cortical cell types by Bakken, Trygve E, Hodge, Rebecca D, Miller, Jeremy A, Yao, Zizhen, Nguyen, Thuc Nghi, Aevermann, Brian, Barkan, Eliza, Bertagnolli, Darren, Casper, Tamara, Dee, Nick, Garren, Emma, Goldy, Jeff, Graybuck, Lucas T, Kroll, Matthew, Lasken, Roger S, Lathia, Kanan, Parry, Sheana, Rimorin, Christine, Scheuermann, Richard H, Schork, Nicholas J, Shehata, Soraya I, Tieu, Michael, Phillips, John W, Bernard, Amy, Smith, Kimberly A, Zeng, Hongkui, Lein, Ed S, Tasic, Bosiljka

“…Transcriptomic profiling of complex tissues by single-nucleus RNA-sequencing (snRNA-seq) affords some advantages over single-cell RNA-sequencing (scRNA-seq)…”
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Patterns of population epigenomic diversity by Schmitz, Robert J., Schultz, Matthew D., Urich, Mark A., Nery, Joseph R., Pelizzola, Mattia, Libiger, Ondrej, Alix, Andrew, McCosh, Richard B., Chen, Huaming, Schork, Nicholas J., Ecker, Joseph R.

“…Natural epigenetic variation provides a source for the generation of phenotypic diversity, but to understand its contribution to such diversity, its…”
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Family income, parental education and brain structure in children and adolescents by Noble, Kimberly G, Houston, Suzanne M, Brito, Natalie H, Bartsch, Hauke, Kan, Eric, Kuperman, Joshua M, Akshoomoff, Natacha, Amaral, David G, Bloss, Cinnamon S, Libiger, Ondrej, Schork, Nicholas J, Murray, Sarah S, Casey, B J, Chang, Linda, Ernst, Thomas M, Frazier, Jean A, Gruen, Jeffrey R, Kennedy, David N, Van Zijl, Peter, Mostofsky, Stewart, Kaufmann, Walter E, Kenet, Tal, Dale, Anders M, Jernigan, Terry L, Sowell, Elizabeth R

“…Socioeconomic status is associated with cognitive development, but the extent to which this reflects neuroanatomical differences is unclear. In 1,099 children…”
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Transgenerational Epigenetic Instability Is a Source of Novel Methylation Variants by Schmitz, Robert J., Schultz, Matthew D., Lewsey, Mathew G., O'Malley, Ronan C., Urich, Mark A., Libiger, Ondrej, Schork, Nicholas J., Ecker, Joseph R.

“…Epigenetic information, which may affect an organism's phenotype, can be stored and stably inherited in the form of cytosine DNA methylation. Changes in DNA…”
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The importance of phase information for human genomics by Schork, Nicholas J, Tewhey, Ryan, Bansal, Vikas, Torkamani, Ali, Topol, Eric J

“…This Opinion article argues that capturing phase information in human genomics studies is crucial for important aims such as understanding how genotype…”
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Multivariate regression analysis of distance matrices for testing associations between gene expression patterns and related variables by Zapala, Matthew A, Schork, Nicholas J

“…A fundamental step in the analysis of gene expression and other high-dimensional genomic data is the calculation of the similarity or distance between pairs of…”
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The dental plaque microbiome in health and disease by Peterson, Scott N, Snesrud, Erik, Liu, Jia, Ong, Ana C, Kilian, Mogens, Schork, Nicholas J, Bretz, Walter

“…Dental decay is one of the most prevalent chronic diseases worldwide. A variety of factors, including microbial, genetic, immunological, behavioral and…”
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Time for one-person trials by Schork, Nicholas J

“…The intervention being tested is often given at random to one group while another group receives a sham treatment, such as a sugar pill or the standard…”
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Identification of rare cancer driver mutations by network reconstruction by Torkamani, Ali, Schork, Nicholas J

“…Recent large-scale tumor resequencing studies have identified a number of mutations that might be involved in tumorigenesis. Analysis of the frequency of…”
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Personalized medicine: Time for one-person trials by Schork, Nicholas J.

“…Precision medicine requires a different type of clinical trial that focuses on individual, not average, responses to therapy, says Nicholas J. Schork…”
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Cross-Species and Human Inter-Tissue Network Analysis of Genes Implicated in Longevity and Aging Reveal Strong Support for Nutrient Sensing by Podder, Avijit, Raju, Anish, Schork, Nicholas J

“…Intensive research efforts have been undertaken to slow human aging and therefore potentially delay the onset of age-related diseases. These efforts have…”
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Pathway analysis of seven common diseases assessed by genome-wide association by Torkamani, Ali, Topol, Eric J., Schork, Nicholas J.

“…Recent genome-wide association studies (GWAS) have identified DNA sequence variations that exhibit unequivocal statistical associations with many common…”
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Whole-genome mutational burden analysis of three pluripotency induction methods by Bhutani, Kunal, Nazor, Kristopher L., Williams, Roy, Tran, Ha, Dai, Heng, Džakula, Željko, Cho, Edward H., Pang, Andy W. C., Rao, Mahendra, Cao, Han, Schork, Nicholas J., Loring, Jeanne F.

“…There is concern that the stresses of inducing pluripotency may lead to deleterious DNA mutations in induced pluripotent stem cell (iPSC) lines, which would…”
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Gene-by-Environment (Serotonin Transporter and Childhood Maltreatment) Interaction for Anxiety Sensitivity, an Intermediate Phenotype for Anxiety Disorders by STEIN, Murray B, SCHORK, Nicholas J, GELERNTER, Joel

“…Anxiety sensitivity (AS) is a dispositional characteristic that predisposes to the development of anxiety disorders (eg, panic and post-traumatic stress…”
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Heritability of Nonalcoholic Fatty Liver Disease by Schwimmer, Jeffrey B, Celedon, Manuel A, Lavine, Joel E, Salem, Rany, Campbell, Nzali, Schork, Nicholas J, Shiehmorteza, Masoud, Yokoo, Takeshi, Chavez, Alyssa, Middleton, Michael S, Sirlin, Claude B

“…Background & Aims Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in the United States. The etiology is believed to be…”
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