A citation-based method for searching scientific literature

Frederick E Dewey, Michael F Murray, John D Overton, Lukas Habegger, Joseph B Leader, Samantha N Fetterolf, Colm O'Dushlaine, Cristopher V Van Hout, Jeffrey Staples, Claudia Gonzaga-Jauregui, Raghu Metpally, Sarah A Pendergrass, Monica A Giovanni, H Lester Kirchner, Suganthi Balasubramanian, Noura S Abul-Husn, Dustin N Hartzel, Daniel R Lavage, Korey A Kost, Jonathan S Packer, Alexander E Lopez, John Penn, Semanti Mukherjee, Nehal Gosalia, Manoj Kanagaraj, Alexander H Li, Lyndon J Mitnaul, Lance J Adams, Thomas N Person, Kavita Praveen, Anthony Marcketta, Matthew S Lebo, Christina A Austin-Tse, Heather M Mason-Suares, Shannon Bruse, Scott Mellis, Robert Phillips, Neil Stahl, Andrew Murphy, Aris Economides, Kimberly A Skelding, Christopher D Still, James R Elmore, Ingrid B Borecki, George D Yancopoulos, F Daniel Davis, William A Faucett, Omri Gottesman, Marylyn D Ritchie, Alan R Shuldiner, Jeffrey G Reid, David H Ledbetter, Aris Baras, David J Carey. Science 2016
Times Cited: 302







List of co-cited articles
2738 articles co-cited >1



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
29

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
111
27

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.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
21

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
21

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.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
918
18

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
18

The UK Biobank resource with deep phenotyping and genomic data.
Clare Bycroft, Colin Freeman, Desislava Petkova, Gavin Band, Lloyd T Elliott, Kevin Sharp, Allan Motyer, Damjan Vukcevic, Olivier Delaneau, Jared O'Connell,[...]. Nature 2018
18

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
174
16

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
14

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
12

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, Joseph S Salama, Ragan Hart, Brian H Shirts, Mitzi L Murray, Mari J Tokita, Carlos J Gallego, Daniel Seung Kim,[...]. Genome Res 2015
235
11

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018
11

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
72
13

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
Daniel Taliun, Daniel N Harris, Michael D Kessler, Jedidiah Carlson, Zachary A Szpiech, Raul Torres, Sarah A Gagliano Taliun, André Corvelo, Stephanie M Gogarten, Hyun Min Kang,[...]. Nature 2021
243
10

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
10

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
225
9

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
9

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
651
9

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
288
8

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
8

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
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
55
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
7

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
967
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
22
31

Predicting functional effect of human missense mutations using PolyPhen-2.
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
121
7

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
365
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
291
7

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
30
23

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
6

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
65
9

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
6

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
46
13

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
277
6



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
244
6

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
32
18

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
44
13

MutationTaster evaluates disease-causing potential of sequence alterations.
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow. Nat Methods 2010
6

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
29
17

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
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
339
5

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
5

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
852
5

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
507
5

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
5

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
496
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.