Search Results - "MacArthur, Daniel G."

Variant interpretation using population databases: Lessons from gnomAD by Gudmundsson, Sanna, Singer‐Berk, Moriel, Watts, Nicholas A., Phu, William, Goodrich, Julia K., Solomonson, Matthew, Rehm, Heidi L., MacArthur, Daniel G., O'Donnell‐Luria, Anne

“…Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the…”
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The ExAC browser: displaying reference data information from over 60 000 exomes by Karczewski, Konrad J, Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M, Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E, Cummings, Beryl B, Birnbaum, Daniel, Daly, Mark J, MacArthur, Daniel G

“…Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information…”
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Dindel: accurate indel calls from short-read data by Albers, Cornelis A, Lunter, Gerton, MacArthur, Daniel G, McVean, Gilean, Ouwehand, Willem H, Durbin, Richard

“…Small insertions and deletions (indels) are a common and functionally important type of sequence polymorphism. Most of the focus of studies of sequence…”
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Transcriptome variation in human tissues revealed by long-read sequencing by Glinos, Dafni A., Garborcauskas, Garrett, Hoffman, Paul, Ehsan, Nava, Jiang, Lihua, Gokden, Alper, Dai, Xiaoguang, Aguet, François, Brown, Kathleen L., Garimella, Kiran, Bowers, Tera, Costello, Maura, Ardlie, Kristin, Jian, Ruiqi, Tucker, Nathan R., Ellinor, Patrick T., Harrington, Eoghan D., Tang, Hua, Snyder, Michael, Juul, Sissel, Mohammadi, Pejman, MacArthur, Daniel G., Lappalainen, Tuuli, Cummings, Beryl B.

“…Regulation of transcript structure generates transcript diversity and plays an important role in human disease 1 – 7 . The advent of long-read sequencing…”
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STRetch: detecting and discovering pathogenic short tandem repeat expansions by Dashnow, Harriet, Lek, Monkol, Phipson, Belinda, Halman, Andreas, Sadedin, Simon, Lonsdale, Andrew, Davis, Mark, Lamont, Phillipa, Clayton, Joshua S, Laing, Nigel G, MacArthur, Daniel G, Oshlack, Alicia

“…Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in dozens of Mendelian diseases. Most existing tools for detecting STR…”
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples by Kosmicki, Jack A, Samocha, Kaitlin E, Howrigan, Daniel P, Sanders, Stephan J, Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J, Cutler, David J, Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D, Neale, Benjamin M, MacArthur, Daniel G, Wall, Dennis P, Robinson, Elise B, Daly, Mark J

“…Mark Daly and colleagues use population reference samples to refine the role of de novo protein-truncating variants in neurodevelopmental disorders. They show…”
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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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The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity by Grimm, Dominik G., Azencott, Chloé-Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David N., Stenson, Peter D., Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E., Borgwardt, Karsten M.

“…ABSTRACT Prioritizing missense variants for further experimental investigation is a key challenge in current sequencing studies for exploring complex and…”
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Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci by Lessard, Samuel, Francioli, Laurent, Alfoldi, Jessica, Tardif, Jean-Claude, Ellinor, Patrick T., MacArthur, Daniel G., Lettre, Guillaume, Orkin, Stuart H., Canver, Matthew C.

“…The CRISPR-Cas9 nuclease system holds enormous potential for therapeutic genome editing of a wide spectrum of diseases. Large efforts have been made to further…”
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Genetic regulatory variation in populations informs transcriptome analysis in rare disease by Mohammadi, Pejman, Castel, Stephane E, Cummings, Beryl B, Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A Reghan, Wheeler, Heather E, Im, Hae Kyung, Bonnemann, Carsten G, MacArthur, Daniel G, Lappalainen, Tuuli

“…Transcriptome data can facilitate the interpretation of the effects of rare genetic variants. Here, we introduce ANEVA (analysis of expression variation) to…”
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Origins and functional impact of copy number variation in the human genome by Scherer, Stephen W, Hurles, Matthew E, Conrad, Donald F, Pinto, Dalila, Redon, Richard, Feuk, Lars, Gokcumen, Omer, Zhang, Yujun, Aerts, Jan, Andrews, T. Daniel, Barnes, Chris, Campbell, Peter, Fitzgerald, Tomas, Hu, Min, Ihm, Chun Hwa, Kristiansson, Kati, MacArthur, Daniel G, MacDonald, Jeffrey R, Onyiah, Ifejinelo, Pang, Andy Wing Chun, Robson, Sam, Stirrups, Kathy, Valsesia, Armand, Walter, Klaudia, Wei, John, Tyler-Smith, Chris, Carter, Nigel P, Lee, Charles

“…Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained…”
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Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people by Finer, Sarah, Martin, Hilary C, Khan, Ahsan, Hunt, Karen A, MacLaughlin, Beverley, Ahmed, Zaheer, Ashcroft, Richard, Durham, Ceri, MacArthur, Daniel G, McCarthy, Mark I, Robson, John, Trivedi, Bhavi, Griffiths, Chris, Wright, John, Trembath, Richard C, van Heel, David A

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Estimating the selective effects of heterozygous protein-truncating variants from human exome data by Cassa, Christopher A, Weghorn, Donate, Balick, Daniel J, Jordan, Daniel M, Nusinow, David, Samocha, Kaitlin E, O'Donnell-Luria, Anne, MacArthur, Daniel G, Daly, Mark J, Beier, David R, Sunyaev, Shamil R

“…Shamil Sunyaev, David Beier and colleagues report an analysis of the fitness effects of heterozygous protein-truncating variants from the Exome Aggregation…”
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Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis by Minikel, Eric Vallabh, MacArthur, Daniel G.

“…It has recently been reported that an NR1H3 missense variant, R415Q, causes a novel familial form of multiple sclerosis (Wang et al., 2016a). This claim is at…”
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From patients to partners: participant-centric initiatives in biomedical research by Kaye, Jane, Curren, Liam, Anderson, Nick, Edwards, Kelly, Fullerton, Stephanie M., Kanellopoulou, Nadja, Lund, David, MacArthur, Daniel G., Mascalzoni, Deborah, Shepherd, James, Taylor, Patrick L., Terry, Sharon F., Winter, Stefan F.

“…Participant-centred initiatives use social media technologies to allow long-term interactive partnerships to be established between study participants and…”
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A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica by Estrada, Karol, Whelan, Christopher W., Zhao, Fengmei, Bronson, Paola, Handsaker, Robert E., Sun, Chao, Carulli, John P., Harris, Tim, Ransohoff, Richard M., McCarroll, Steven A., Day-Williams, Aaron G., Greenberg, Benjamin M., MacArthur, Daniel G.

“…Neuromyelitis optica (NMO) is a rare autoimmune disease that affects the optic nerve and spinal cord. Most NMO patients ( > 70%) are seropositive for…”
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Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects by Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.

“…As new proposals aim to sequence ever larger collection of humans, it is critical to have a quantitative framework to evaluate the statistical power of these…”
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The landscape of genomic imprinting across diverse adult human tissues by Baran, Yael, Subramaniam, Meena, Biton, Anne, Tukiainen, Taru, Tsang, Emily K, Rivas, Manuel A, Pirinen, Matti, Gutierrez-Arcelus, Maria, Smith, Kevin S, Kukurba, Kim R, Zhang, Rui, Eng, Celeste, Torgerson, Dara G, Urbanek, Cydney, Li, Jin Billy, Rodriguez-Santana, Jose R, Burchard, Esteban G, Seibold, Max A, MacArthur, Daniel G, Montgomery, Stephen B, Zaitlen, Noah A, Lappalainen, Tuuli

“…Genomic imprinting is an important regulatory mechanism that silences one of the parental copies of a gene. To systematically characterize this phenomenon, we…”
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Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes by Wieder, Nechama, D'Souza, Elston N, Martin-Geary, Alexandra C, Lassen, Frederik H, Talbot-Martin, Jonathan, Fernandes, Maria, Chothani, Sonia P, Rackham, Owen J L, Schafer, Sebastian, Aspden, Julie L, MacArthur, Daniel G, Davies, Robert W, Whiffin, Nicola

“…Untranslated regions (UTRs) are important mediators of post-transcriptional regulation. The length of UTRs and the composition of regulatory elements within…”
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Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes by Balasubramanian, Suganthi, Fu, Yao, Pawashe, Mayur, McGillivray, Patrick, Jin, Mike, Liu, Jeremy, Karczewski, Konrad J., MacArthur, Daniel G., Gerstein, Mark

“…Variants predicted to result in the loss of function of human genes have attracted interest because of their clinical impact and surprising prevalence in…”
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