Search Results - "Purcell, Shaun"

Statistical power and significance testing in large-scale genetic studies by Sham, Pak C., Purcell, Shaun M.

“…Key Points Significance testing, with appropriate multiple testing correction, is currently the most convenient method for summarizing the evidence for…”
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Reduced Sleep Spindles in Schizophrenia: A Treatable Endophenotype That Links Risk Genes to Impaired Cognition? by Manoach, Dara S, Pan, Jen Q, Purcell, Shaun M, Stickgold, Robert

“…Abstract Although schizophrenia (SZ) is defined by waking phenomena, abnormal sleep is a common feature. In particular, there is accumulating evidence of a…”
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Sleep and Big Data: harnessing data, technology, and analytics for monitoring sleep and improving diagnostics, prediction, and interventions—an era for Sleep-Omics? by Redline, Susan, Purcell, Shaun M

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Testing for an unusual distribution of rare variants by Neale, Benjamin M, Rivas, Manuel A, Voight, Benjamin F, Altshuler, David, Devlin, Bernie, Orho-Melander, Marju, Kathiresan, Sekar, Purcell, Shaun M, Roeder, Kathryn, Daly, Mark J

“…Technological advances make it possible to use high-throughput sequencing as a primary discovery tool of medical genetics, specifically for assaying rare…”
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Second-generation PLINK: rising to the challenge of larger and richer datasets by Chang, Christopher C, Chow, Carson C, Tellier, Laurent Cam, Vattikuti, Shashaank, Purcell, Shaun M, Lee, James J

“…PLINK 1 is a widely used open-source C/C++ toolset for genome-wide association studies (GWAS) and research in population genetics. However, the steady…”
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Pleiotropy in complex traits: challenges and strategies by Solovieff, Nadia, Cotsapas, Chris, Lee, Phil H., Purcell, Shaun M., Smoller, Jordan W.

“…Key Points Genome-wide association studies have identified many novel loci for hundreds of traits. Interestingly, numerous genetic loci have been associated…”
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INRICH: interval-based enrichment analysis for genome-wide association studies by LEE, Phil H, O'DUSHLAINE, Colm, THOMAS, Brett, PURCELL, Shaun M

“…Here we present INRICH (INterval enRICHment analysis), a pathway-based genome-wide association analysis tool that tests for enriched association signals of…”
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The hypoxic burden of sleep apnoea predicts cardiovascular disease-related mortality: the Osteoporotic Fractures in Men Study and the Sleep Heart Health Study by Azarbarzin, Ali, Sands, Scott A, Stone, Katie L, Taranto-Montemurro, Luigi, Messineo, Ludovico, Terrill, Philip I, Ancoli-Israel, Sonia, Ensrud, Kristine, Purcell, Shaun, White, David P, Redline, Susan, Wellman, Andrew

“…Abstract Aims Apnoea–hypopnoea index (AHI), the universal clinical metric of sleep apnoea severity, poorly predicts the adverse outcomes of sleep apnoea,…”
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Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth by FROMER, Menachem, MORAN, Jennifer L, KIROV, George, SULLIVAN, Patrick F, HULTMAN, Christina M, SKLAR, Pamela, PURCELL, Shaun M, CHAMBERT, Kimberly, BANKS, Eric, BERGEN, Sarah E, RUDERFER, DouglasM, HANDSAKER, Robert E, MCCARROLL, Steven A, O'DONOVAN, Michael C, OWEN, Michael J

“…Sequencing of gene-coding regions (the exome) is increasingly used for studying human disease, for which copy-number variants (CNVs) are a critical genetic…”
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De novo mutations in schizophrenia implicate synaptic networks by Fromer, Menachem, Pocklington, Andrew J., Kavanagh, David H., Williams, Hywel J., Dwyer, Sarah, Gormley, Padhraig, Georgieva, Lyudmila, Rees, Elliott, Palta, Priit, Ruderfer, Douglas M., Carrera, Noa, Humphreys, Isla, Johnson, Jessica S., Roussos, Panos, Barker, Douglas D., Banks, Eric, Milanova, Vihra, Grant, Seth G., Hannon, Eilis, Rose, Samuel A., Chambert, Kimberly, Mahajan, Milind, Scolnick, Edward M., Moran, Jennifer L., Kirov, George, Palotie, Aarno, McCarroll, Steven A., Holmans, Peter, Sklar, Pamela, Owen, Michael J., Purcell, Shaun M., O’Donovan, Michael C.

“…Inherited alleles account for most of the genetic risk for schizophrenia. However, new ( de novo ) mutations, in the form of large chromosomal copy number…”
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Synthetic associations created by rare variants do not explain most GWAS results by Wray, Naomi R, Purcell, Shaun M, Visscher, Peter M

“…Abbreviations: GRR, genotype relative risk; GWAS, genome-wide association study; ISC, International Schizophrenia Consortium; LD, linkage disequilibrium; MAF,…”
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Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data by Fromer, Menachem, Purcell, Shaun M

“…Copy number variation (CNV) has emerged as an important genetic component in human diseases, which are increasingly being studied for large numbers of samples…”
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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes by Ruderfer, Douglas M, Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J, Kavanagh, David, Samocha, Kaitlin E, Daly, Mark J, MacArthur, Daniel G, Fromer, Menachem, Purcell, Shaun M

“…Douglas Ruderfer, Shaun Purcell and colleagues characterized the rates and properties of rare genic copy number variants in exome sequencing data from nearly…”
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A framework for the interpretation of de novo mutation in human disease by Samocha, Kaitlin E, Robinson, Elise B, Sanders, Stephan J, Stevens, Christine, Sabo, Aniko, McGrath, Lauren M, Kosmicki, Jack A, Rehnström, Karola, Mallick, Swapan, Kirby, Andrew, Wall, Dennis P, MacArthur, Daniel G, Gabriel, Stacey B, DePristo, Mark, Purcell, Shaun M, Palotie, Aarno, Boerwinkle, Eric, Buxbaum, Joseph D, Cook, Edwin H, Gibbs, Richard A, Schellenberg, Gerard D, Sutcliffe, James S, Devlin, Bernie, Roeder, Kathryn, Neale, Benjamin M, Daly, Mark J

“…Mark Daly and colleagues present a statistical framework to evaluate the role of de novo mutations in human disease by calibrating a model of de novo mutation…”
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AI-Driven sleep staging from actigraphy and heart rate by Song, Tzu-An, Chowdhury, Samadrita Roy, Malekzadeh, Masoud, Harrison, Stephanie, Hoge, Terri Blackwell, Redline, Susan, Stone, Katie L, Saxena, Richa, Purcell, Shaun M, Dutta, Joyita

“…Sleep is an important indicator of a person's health, and its accurate and cost-effective quantification is of great value in healthcare. The gold standard for…”
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Pooled Association Tests for Rare Variants in Exon-Resequencing Studies by Price, Alkes L., Kryukov, Gregory V., de Bakker, Paul I.W., Purcell, Shaun M., Staples, Jeff, Wei, Lee-Jen, Sunyaev, Shamil R.

“…Deep sequencing will soon generate comprehensive sequence information in large disease samples. Although the power to detect association with an individual…”
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Partitioning heritability by functional annotation using genome-wide association summary statistics by Finucane, Hilary K, Bulik-Sullivan, Brendan, Gusev, Alexander, Trynka, Gosia, Reshef, Yakir, Loh, Po-Ru, Anttila, Verneri, Xu, Han, Zang, Chongzhi, Farh, Kyle, Ripke, Stephan, Day, Felix R, Purcell, Shaun, Stahl, Eli, Lindstrom, Sara, Perry, John R B, Okada, Yukinori, Raychaudhuri, Soumya, Daly, Mark J, Patterson, Nick, Neale, Benjamin M, Price, Alkes L

“…Hilary Finucane, Brendan Bulik-Sullivan, Benjamin Neale, Alkes Price and colleagues introduce a new method, called stratified LD score regression, for…”
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Sex differences in obstructive sleep apnea phenotypes, the multi-ethnic study of atherosclerosis by Won, Christine H J, Reid, Michelle, Sofer, Tamar, Azarbarzin, Ali, Purcell, Shaun, White, David, Wellman, Andrew, Sands, Scott, Redline, Susan

“…Abstract Study Objectives The bases for sex disparities in obstructive sleep apnea (OSA), is poorly understood. We quantified the influences of event…”
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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia by Genovese, Giulio, Fromer, Menachem, Stahl, Eli A, Ruderfer, Douglas M, Chambert, Kimberly, Landén, Mikael, Moran, Jennifer L, Purcell, Shaun M, Sklar, Pamela, Sullivan, Patrick F, Hultman, Christina M, McCarroll, Steven A

“…Using whole-exome sequencing, the authors identified 244,246 coding-sequence and splice-site ultra-rare variants (URVs) and found that gene-disruptive and…”
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Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits by Lane, Jacqueline M, Liang, Jingjing, Vlasac, Irma, Anderson, Simon G, Bechtold, David A, Bowden, Jack, Emsley, Richard, Gill, Shubhroz, Little, Max A, Luik, Annemarie I, Loudon, Andrew, Scheer, Frank A J L, Purcell, Shaun M, Kyle, Simon D, Lawlor, Deborah A, Zhu, Xiaofeng, Redline, Susan, Ray, David W, Rutter, Martin K, Saxena, Richa

“…Richa Saxena and colleagues report genome-wide association analyses of sleep disturbance traits in the UK Biobank cohort. They discover loci associated with…”
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