Search Results - "BASTARACHE, Lisa"

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record by Wei, Wei-Qi, Bastarache, Lisa A, Carroll, Robert J, Marlo, Joy E, Osterman, Travis J, Gamazon, Eric R, Cox, Nancy J, Roden, Dan M, Denny, Joshua C

“…To compare three groupings of Electronic Health Record (EHR) billing codes for their ability to represent clinically meaningful phenotypes and to replicate…”
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Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies by Zhou, Wei, Nielsen, Jonas B., Fritsche, Lars G., Dey, Rounak, Gabrielsen, Maiken E., Wolford, Brooke N., LeFaive, Jonathon, VandeHaar, Peter, Gagliano, Sarah A., Gifford, Aliya, Bastarache, Lisa A., Wei, Wei-Qi, Denny, Joshua C., Lin, Maoxuan, Hveem, Kristian, Kang, Hyun Min, Abecasis, Goncalo R., Willer, Cristen J., Lee, Seunggeun

“…In genome-wide association studies (GWAS) for thousands of phenotypes in large biobanks, most binary traits have substantially fewer cases than controls. Both…”
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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci by Barbeira, Alvaro N, Bonazzola, Rodrigo, Gamazon, Eric R, Liang, Yanyu, Park, YoSon, Kim-Hellmuth, Sarah, Wang, Gao, Jiang, Zhuoxun, Zhou, Dan, Hormozdiari, Farhad, Liu, Boxiang, Rao, Abhiram, Hamel, Andrew R, Pividori, Milton D, Aguet, François, Bastarache, Lisa, Jordan, Daniel M, Verbanck, Marie, Do, Ron, Stephens, Matthew, Ardlie, Kristin, McCarthy, Mark, Montgomery, Stephen B, Segrè, Ayellet V, Brown, Christopher D, Lappalainen, Tuuli, Wen, Xiaoquan, Im, Hae Kyung

“…The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we…”
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R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment by Carroll, Robert J, Bastarache, Lisa, Denny, Joshua C

“…Phenome-wide association studies (PheWAS) have been used to replicate known genetic associations and discover new phenotype associations for genetic variants…”
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Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease by Johnson, Ruth, Stephens, Alexis V, Mester, Rachel, Knyazev, Sergey, Kohn, Lisa A, Freund, Malika K, Bondhus, Leroy, Hill, Brian L, Schwarz, Tommer, Zaitlen, Noah, Arboleda, Valerie A, A Bastarache, Lisa, Pasaniuc, Bogdan, Butte, Manish J

“…Human inborn errors of immunity include rare disorders entailing functional and quantitative antibody deficiencies due to impaired B cells called the common…”
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PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations by Denny, Joshua C., Ritchie, Marylyn D., Basford, Melissa A., Pulley, Jill M., Bastarache, Lisa, Brown-Gentry, Kristin, Wang, Deede, Masys, Dan R., Roden, Dan M., Crawford, Dana C.

“…Motivation: Emergence of genetic data coupled to longitudinal electronic medical records (EMRs) offers the possibility of phenome-wide association scans…”
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LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks by Goldstein, Jeffery A, Weinstock, Joshua S, Bastarache, Lisa A, Larach, Daniel B, Fritsche, Lars G, Schmidt, Ellen M, Brummett, Chad M, Kheterpal, Sachin, Abecasis, Goncalo R, Denny, Joshua C, Zawistowski, Matthew

“…Phenotypes extracted from Electronic Health Records (EHRs) are increasingly prevalent in genetic studies. EHRs contain hundreds of distinct clinical laboratory…”
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The phenotypic legacy of admixture between modern humans and Neandertals by Simonti, Corinne N., Vernot, Benjamin, Bastarache, Lisa, Bottinger, Erwin, Carrell, David S., Chisholm, Rex L., Crosslin, David R., Hebbring, Scott J., Jarvik, Gail P., Kullo, Iftikhar J., Li, Rongling, Pathak, Jyotishman, Ritchie, Marylyn D., Roden, Dan M., Verma, Shefali S., Tromp, Gerard, Prato, Jeffrey D., Bush, William S., Akey, Joshua M., Denny, Joshua C., Capra, John A.

“…Many modern human genomes retain DNA inherited from interbreeding with archaic hominins, such as Neandertals, yet the influence of this admixture on human…”
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NKCC1: Newly Found as a Human Disease-Causing Ion Transporter by Koumangoye, Rainelli, Bastarache, Lisa, Delpire, Eric

“…Among the electroneutral Na -dependent chloride transporters, NKCC1 had until now evaded identification as a protein causing human diseases. The closely…”
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Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank by Zeng, Chenjie, Schlueter, David J, Tran, Tam C, Babbar, Anav, Cassini, Thomas, Bastarache, Lisa A, Denny, Josh C

“…Knowledge gained from cohort studies has dramatically advanced both public and precision health. The All of Us Research Program seeks to enroll 1 million…”
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Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection by Schuler, Bryce A, Bastarache, Lisa, Wang, Janey, He, Jing, Van Driest, Sara L, Denny, Joshua C

“…Alpha-1 antitrypsin deficiency (AATD), a relatively common autosomal recessive genetic disorder, is underdiagnosed in symptomatic individuals. We sought to…”
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Joint mouse–human phenome-wide association to test gene function and disease risk by Wang, Xusheng, Pandey, Ashutosh K., Mulligan, Megan K., Williams, Evan G., Mozhui, Khyobeni, Li, Zhengsheng, Jovaisaite, Virginija, Quarles, L. Darryl, Xiao, Zhousheng, Huang, Jinsong, Capra, John A., Chen, Zugen, Taylor, William L., Bastarache, Lisa, Niu, Xinnan, Pollard, Katherine S., Ciobanu, Daniel C., Reznik, Alexander O., Tishkov, Artem V., Zhulin, Igor B., Peng, Junmin, Nelson, Stanley F., Denny, Joshua C., Auwerx, Johan, Lu, Lu, Williams, Robert W.

“…Phenome-wide association is a novel reverse genetic strategy to analyze genome-to-phenome relations in human clinical cohorts. Here we test this approach using…”
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Multi-omic analysis elucidates the genetic basis of hydrocephalus by Hale, Andrew T., Bastarache, Lisa, Morales, Diego M., Wellons, John C., Limbrick, David D., Gamazon, Eric R.

“…We conducted PrediXcan analysis of hydrocephalus risk in ten neurological tissues and whole blood. Decreased expression of MAEL in the brain was significantly…”
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The current state of omics technologies in the clinical management of asthma and allergic diseases by Donovan, Brittney M., Bastarache, Lisa, Turi, Kedir N., Zutter, Mary M., Hartert, Tina V.

“…To review the state of omics science specific to asthma and allergic diseases and discuss the current and potential applicability of omics in clinical disease…”
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Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals by Teixeira, Pedro L, Wei, Wei-Qi, Cronin, Robert M, Mo, Huan, VanHouten, Jacob P, Carroll, Robert J, LaRose, Eric, Bastarache, Lisa A, Rosenbloom, S. Trent, Edwards, Todd L, Roden, Dan M, Lasko, Thomas A, Dart, Richard A, Nikolai, Anne M, Peissig, Peggy L, Denny, Joshua C

“…Objective: Phenotyping algorithms applied to electronic health record (EHR) data enable investigators to identify large cohorts for clinical and genomic…”
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Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record by Hughey, Jacob J, Rhoades, Seth D, Fu, Darwin Y, Bastarache, Lisa, Denny, Joshua C, Chen, Qingxia

“…The growth of DNA biobanks linked to data from electronic health records (EHRs) has enabled the discovery of numerous associations between genomic variants and…”
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P298: Characterization of electronic health record features in critically ill neonates with genetic diagnoses by Schuler, Bryce, Sucre, Jennifer, Bastarache, Lisa, Ruderfer, Douglas

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O52: Phenotypic convergence in the diagnostic process of Mendelian genetic disorders by Tinker, Rory, Peterson, Josh, Bastarache, Lisa

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Bronchopulmonary dysplasia is associated with polyhydramnios in a scan for novel perinatal risk factors by Campbell, Meredith S., Bastarache, Lisa A., Van Driest, Sara L., Adgent, Margaret A., Goldstein, Jeffery A., Weitkamp, Joern-Hendrik, Ransom, Meaghan A., Lister, Rolanda L., Shelton, Elaine L., Sucre, Jennifer M. S.

“…Background The pathogenesis of bronchopulmonary dysplasia (BPD) is multifactorial, and there are limited data about prenatal exposures and risk of BPD. Study…”
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Comparison of HLA allelic imputation programs by Karnes, Jason H, Shaffer, Christian M, Bastarache, Lisa, Gaudieri, Silvana, Glazer, Andrew M, Steiner, Heidi E, Mosley, Jonathan D, Mallal, Simon, Denny, Joshua C, Phillips, Elizabeth J, Roden, Dan M

“…Imputation of human leukocyte antigen (HLA) alleles from SNP-level data is attractive due to importance of HLA alleles in human disease, widespread…”
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