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Times Cited: 302
Times Cited: 302
Times Cited
Times Co-cited
Similarity
The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Cristopher V Van Hout, Ioanna Tachmazidou, Joshua D Backman, Joshua D Hoffman, Daren Liu, Ashutosh K Pandey, Claudia Gonzaga-Jauregui, Shareef Khalid, Bin Ye, Nilanjana Banerjee,[...]. Nature 2020
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
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Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
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The UK Biobank resource with deep phenotyping and genomic data.
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The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.
David J Carey, Samantha N Fetterolf, F Daniel Davis, William A Faucett, H Lester Kirchner, Uyenlinh Mirshahi, Michael F Murray, Diane T Smelser, Glenn S Gerhard, David H Ledbetter. Genet Med 2016
David J Carey, Samantha N Fetterolf, F Daniel Davis, William A Faucett, H Lester Kirchner, Uyenlinh Mirshahi, Michael F Murray, Diane T Smelser, Glenn S Gerhard, David H Ledbetter. Genet Med 2016
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A method and server for predicting damaging missense mutations.
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Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
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Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
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ClinVar: improving access to variant interpretations and supporting evidence.
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A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Marci L B Schwartz, Cara Zayac McCormick, Amanda L Lazzeri, D'Andra M Lindbuchler, Miranda L G Hallquist, Kandamurugu Manickam, Adam H Buchanan, Alanna Kulchak Rahm, Monica A Giovanni, Lauren Frisbie,[...]. Am J Hum Genet 2018
Marci L B Schwartz, Cara Zayac McCormick, Amanda L Lazzeri, D'Andra M Lindbuchler, Miranda L G Hallquist, Kandamurugu Manickam, Adam H Buchanan, Alanna Kulchak Rahm, Monica A Giovanni, Lauren Frisbie,[...]. Am J Hum Genet 2018
13
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
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Second-generation PLINK: rising to the challenge of larger and richer datasets.
Christopher C Chang, Carson C Chow, Laurent Cam Tellier, Shashaank Vattikuti, Shaun M Purcell, James J Lee. Gigascience 2015
Christopher C Chang, Carson C Chow, Laurent Cam Tellier, Shashaank Vattikuti, Shaun M Purcell, James J Lee. Gigascience 2015
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Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Noura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, Eric A Wright, Dustin N Hartzel, Claudia Gonzaga-Jauregui, Colm O'Dushlaine, Joseph B Leader, H Lester Kirchner, D'Andra M Lindbuchler,[...]. Science 2016
Noura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, Eric A Wright, Dustin N Hartzel, Claudia Gonzaga-Jauregui, Colm O'Dushlaine, Joseph B Leader, H Lester Kirchner, D'Andra M Lindbuchler,[...]. Science 2016
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A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
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The "All of Us" Research Program.
Joshua C Denny, Joni L Rutter, David B Goldstein, Anthony Philippakis, Jordan W Smoller, Gwynne Jenkins, Eric Dishman. N Engl J Med 2019
Joshua C Denny, Joni L Rutter, David B Goldstein, Anthony Philippakis, Jordan W Smoller, Gwynne Jenkins, Eric Dishman. N Engl J Med 2019
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CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
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Emily Olfson, Catherine E Cottrell, Nicholas O Davidson, Christina A Gurnett, Jonathan W Heusel, Nathan O Stitziel, Li-Shiun Chen, Sarah Hartz, Rakesh Nagarajan, Nancy L Saccone,[...]. PLoS One 2015
12
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.
Pablo Cingolani, Adrian Platts, Le Lily Wang, Melissa Coon, Tung Nguyen, Luan Wang, Susan J Land, Xiangyi Lu, Douglas M Ruden. Fly (Austin) 2012
Pablo Cingolani, Adrian Platts, Le Lily Wang, Melissa Coon, Tung Nguyen, Luan Wang, Susan J Land, Xiangyi Lu, Douglas M Ruden. Fly (Austin) 2012
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Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Amit V Khera, Mark Chaffin, Krishna G Aragam, Mary E Haas, Carolina Roselli, Seung Hoan Choi, Pradeep Natarajan, Eric S Lander, Steven A Lubitz, Patrick T Ellinor,[...]. Nat Genet 2018
Amit V Khera, Mark Chaffin, Krishna G Aragam, Mary E Haas, Carolina Roselli, Seung Hoan Choi, Pradeep Natarajan, Eric S Lander, Steven A Lubitz, Patrick T Ellinor,[...]. Nat Genet 2018
7
A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.
Joseph Park, Michael G Levin, Christopher M Haggerty, Dustin N Hartzel, Renae Judy, Rachel L Kember, Nosheen Reza, Marylyn D Ritchie, Anjali T Owens, Scott M Damrauer,[...]. Genet Med 2020
Joseph Park, Michael G Levin, Christopher M Haggerty, Dustin N Hartzel, Renae Judy, Rachel L Kember, Nosheen Reza, Marylyn D Ritchie, Anjali T Owens, Scott M Damrauer,[...]. Genet Med 2020
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Predicting functional effect of human missense mutations using PolyPhen-2.
Ivan Adzhubei, Daniel M Jordan, Shamil R Sunyaev. Curr Protoc Hum Genet 2013
Ivan Adzhubei, Daniel M Jordan, Shamil R Sunyaev. Curr Protoc Hum Genet 2013
7
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Jason Flannick, Josep M Mercader, Christian Fuchsberger, Miriam S Udler, Anubha Mahajan, Jennifer Wessel, Tanya M Teslovich, Lizz Caulkins, Ryan Koesterer, Francisco Barajas-Olmos,[...]. Nature 2019
Jason Flannick, Josep M Mercader, Christian Fuchsberger, Miriam S Udler, Anubha Mahajan, Jennifer Wessel, Tanya M Teslovich, Lizz Caulkins, Ryan Koesterer, Francisco Barajas-Olmos,[...]. Nature 2019
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Roddy Walsh, Kate L Thomson, James S Ware, Birgit H Funke, Jessica Woodley, Karen J McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C Taylor,[...]. Genet Med 2017
Roddy Walsh, Kate L Thomson, James S Ware, Birgit H Funke, Jessica Woodley, Karen J McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C Taylor,[...]. Genet Med 2017
7
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
Wei Zhou, Jonas B Nielsen, Lars G Fritsche, Rounak Dey, Maiken E Gabrielsen, Brooke N Wolford, Jonathon LeFaive, Peter VandeHaar, Sarah A Gagliano, Aliya Gifford,[...]. Nat Genet 2018
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Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Joseph D Szustakowski, Suganthi Balasubramanian, Erika Kvikstad, Shareef Khalid, Paola G Bronson, Ariella Sasson, Emily Wong, Daren Liu, J Wade Davis, Carolina Haefliger,[...]. Nat Genet 2021
Joseph D Szustakowski, Suganthi Balasubramanian, Erika Kvikstad, Shareef Khalid, Paola G Bronson, Ariella Sasson, Emily Wong, Daren Liu, J Wade Davis, Carolina Haefliger,[...]. Nat Genet 2021
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ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
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Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
M Ragan Hart, Barbara B Biesecker, Carrie L Blout, Kurt D Christensen, Laura M Amendola, Katie L Bergstrom, Sawona Biswas, Kevin M Bowling, Kyle B Brothers, Laura K Conlin,[...]. Genet Med 2019
M Ragan Hart, Barbara B Biesecker, Carrie L Blout, Kurt D Christensen, Laura M Amendola, Katie L Bergstrom, Sawona Biswas, Kevin M Bowling, Kyle B Brothers, Laura K Conlin,[...]. Genet Med 2019
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
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Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Elizabeth T Cirulli, Simon White, Robert W Read, Gai Elhanan, William J Metcalf, Francisco Tanudjaja, Donna M Fath, Efren Sandoval, Magnus Isaksson, Karen A Schlauch,[...]. Nat Commun 2020
Elizabeth T Cirulli, Simon White, Robert W Read, Gai Elhanan, William J Metcalf, Francisco Tanudjaja, Donna M Fath, Efren Sandoval, Magnus Isaksson, Karen A Schlauch,[...]. Nat Commun 2020
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Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Michael O Dorschner, Laura M Amendola, Emily H Turner, Peggy D Robertson, Brian H Shirts, Carlos J Gallego, Robin L Bennett, Kelly L Jones, Mari J Tokita, James T Bennett,[...]. Am J Hum Genet 2013
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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.
Prateek Kumar, Steven Henikoff, Pauline C Ng. Nat Protoc 2009
Prateek Kumar, Steven Henikoff, Pauline C Ng. Nat Protoc 2009
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Identification of deleterious mutations within three human genomes.
Sung Chun, Justin C Fay. Genome Res 2009
Sung Chun, Justin C Fay. Genome Res 2009
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Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Derek Klarin, Scott M Damrauer, Kelly Cho, Yan V Sun, Tanya M Teslovich, Jacqueline Honerlaw, David R Gagnon, Scott L DuVall, Jin Li, Gina M Peloso,[...]. Nat Genet 2018
Derek Klarin, Scott M Damrauer, Kelly Cho, Yan V Sun, Tanya M Teslovich, Jacqueline Honerlaw, David R Gagnon, Scott L DuVall, Jin Li, Gina M Peloso,[...]. Nat Genet 2018
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1 in 38 individuals at risk of a dominant medically actionable disease.
Lonneke Haer-Wigman, Vyne van der Schoot, Ilse Feenstra, Anneke T Vulto-van Silfhout, Christian Gilissen, Han G Brunner, Lisenka E L M Vissers, Helger G Yntema. Eur J Hum Genet 2019
Lonneke Haer-Wigman, Vyne van der Schoot, Ilse Feenstra, Anneke T Vulto-van Silfhout, Christian Gilissen, Han G Brunner, Lisenka E L M Vissers, Helger G Yntema. Eur J Hum Genet 2019
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Computationally efficient whole-genome regression for quantitative and binary traits.
Joelle Mbatchou, Leland Barnard, Joshua Backman, Anthony Marcketta, Jack A Kosmicki, Andrey Ziyatdinov, Christian Benner, Colm O'Dushlaine, Mathew Barber, Boris Boutkov,[...]. Nat Genet 2021
Joelle Mbatchou, Leland Barnard, Joshua Backman, Anthony Marcketta, Jack A Kosmicki, Andrey Ziyatdinov, Christian Benner, Colm O'Dushlaine, Mathew Barber, Boris Boutkov,[...]. Nat Genet 2021
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MutationTaster evaluates disease-causing potential of sequence alterations.
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow. Nat Methods 2010
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow. Nat Methods 2010
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Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Noura S Abul-Husn, Emily R Soper, Jacqueline A Odgis, Sinead Cullina, Dean Bobo, Arden Moscati, Jessica E Rodriguez, Ruth J F Loos, Judy H Cho, Gillian M Belbin,[...]. Genome Med 2019
Noura S Abul-Husn, Emily R Soper, Jacqueline A Odgis, Sinead Cullina, Dean Bobo, Arden Moscati, Jessica E Rodriguez, Ruth J F Loos, Judy H Cho, Gillian M Belbin,[...]. Genome Med 2019
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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
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Fast and accurate short read alignment with Burrows-Wheeler transform.
Heng Li, Richard Durbin. Bioinformatics 2009
Heng Li, Richard Durbin. Bioinformatics 2009
5
Million Veteran Program: A mega-biobank to study genetic influences on health and disease.
John Michael Gaziano, John Concato, Mary Brophy, Louis Fiore, Saiju Pyarajan, James Breeling, Stacey Whitbourne, Jennifer Deen, Colleen Shannon, Donald Humphries,[...]. J Clin Epidemiol 2016
John Michael Gaziano, John Concato, Mary Brophy, Louis Fiore, Saiju Pyarajan, James Breeling, Stacey Whitbourne, Jennifer Deen, Colleen Shannon, Donald Humphries,[...]. J Clin Epidemiol 2016
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UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age.
Cathie Sudlow, John Gallacher, Naomi Allen, Valerie Beral, Paul Burton, John Danesh, Paul Downey, Paul Elliott, Jane Green, Martin Landray,[...]. PLoS Med 2015
Cathie Sudlow, John Gallacher, Naomi Allen, Valerie Beral, Paul Burton, John Danesh, Paul Downey, Paul Elliott, Jane Green, Martin Landray,[...]. PLoS Med 2015
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Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
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Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
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The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
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Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
Joshua C Denny, Lisa Bastarache, Marylyn D Ritchie, Robert J Carroll, Raquel Zink, Jonathan D Mosley, Julie R Field, Jill M Pulley, Andrea H Ramirez, Erica Bowton,[...]. Nat Biotechnol 2013
Joshua C Denny, Lisa Bastarache, Marylyn D Ritchie, Robert J Carroll, Raquel Zink, Jonathan D Mosley, Julie R Field, Jill M Pulley, Andrea H Ramirez, Erica Bowton,[...]. Nat Biotechnol 2013
5
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.