A citation-based method for searching scientific literature

Jacob A Tennessen, Abigail W Bigham, Timothy D O'Connor, Wenqing Fu, Eimear E Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun, Hyun Min Kang, Daniel Jordan, Suzanne M Leal, Stacey Gabriel, Mark J Rieder, Goncalo Abecasis, David Altshuler, Deborah A Nickerson, Eric Boerwinkle, Shamil Sunyaev, Carlos D Bustamante, Michael J Bamshad, Joshua M Akey. Science 2012
Times Cited: 1091







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



Times Cited
  Times     Co-cited
Similarity


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
43

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
39

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
20

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
18

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.
Matthew R Nelson, Daniel Wegmann, Margaret G Ehm, Darren Kessner, Pamela St Jean, Claudio Verzilli, Judong Shen, Zhengzheng Tang, Silviu-Alin Bacanu, Dana Fraser,[...]. Science 2012
449
15

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
14

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
13

An integrated map of genetic variation from 1,092 human genomes.
Goncalo R Abecasis, Adam Auton, Lisa D Brooks, Mark A DePristo, Richard M Durbin, Robert E Handsaker, Hyun Min Kang, Gabor T Marth, Gil A McVean. Nature 2012
12

ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover,[...]. Nucleic Acids Res 2016
11

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
11


Rare-variant association testing for sequencing data with the sequence kernel association test.
Michael C Wu, Seunggeun Lee, Tianxi Cai, Yun Li, Michael Boehnke, Xihong Lin. Am J Hum Genet 2011
10

A map of human genome variation from population-scale sequencing.
Gonçalo R Abecasis, David Altshuler, Adam Auton, Lisa D Brooks, Richard M Durbin, Richard A Gibbs, Matt E Hurles, Gil A McVean. Nature 2010
10

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Wenqing Fu, Timothy D O'Connor, Goo Jun, Hyun Min Kang, Goncalo Abecasis, Suzanne M Leal, Stacey Gabriel, Mark J Rieder, David Altshuler, Jay Shendure,[...]. Nature 2013
618
10

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
10

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
9

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
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
518
9

dbSNP: the NCBI database of genetic variation.
S T Sherry, M H Ward, M Kholodov, J Baker, L Phan, E M Smigielski, K Sirotkin. Nucleic Acids Res 2001
8

Finding the missing heritability of complex diseases.
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti,[...]. Nature 2009
8

Demographic history and rare allele sharing among human populations.
Simon Gravel, Brenna M Henn, Ryan N Gutenkunst, Amit R Indap, Gabor T Marth, Andrew G Clark, Fuli Yu, Richard A Gibbs, Carlos D Bustamante. Proc Natl Acad Sci U S A 2011
357
8

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
8

Rare and low-frequency coding variants alter human adult height.
Eirini Marouli, Mariaelisa Graff, Carolina Medina-Gomez, Ken Sin Lo, Andrew R Wood, Troels R Kjaer, Rebecca S Fine, Yingchang Lu, Claudia Schurmann, Heather M Highland,[...]. Nature 2017
278
7

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
887
7

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
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,[...]. Science 2016
271
7

The impact of rare and low-frequency genetic variants in common disease.
Lorenzo Bomba, Klaudia Walter, Nicole Soranzo. Genome Biol 2017
131
7


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
6

Efficient Coalescent Simulation and Genealogical Analysis for Large Sample Sizes.
Jerome Kelleher, Alison M Etheridge, Gilean McVean. PLoS Comput Biol 2016
170
6

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

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
844
6

A framework for the interpretation of de novo mutation in human disease.
Kaitlin E Samocha, Elise B Robinson, Stephan J Sanders, Christine Stevens, Aniko Sabo, Lauren M McGrath, Jack A Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby,[...]. Nat Genet 2014
521
6

The variant call format and VCFtools.
Petr Danecek, Adam Auton, Goncalo Abecasis, Cornelis A Albers, Eric Banks, Mark A DePristo, Robert E Handsaker, Gerton Lunter, Gabor T Marth, Stephen T Sherry,[...]. Bioinformatics 2011
6

Population structure and eigenanalysis.
Nick Patterson, Alkes L Price, David Reich. PLoS Genet 2006
5

Testing for an unusual distribution of rare variants.
Benjamin M Neale, Manuel A Rivas, Benjamin F Voight, David Altshuler, Bernie Devlin, Marju Orho-Melander, Sekar Kathiresan, Shaun M Purcell, Kathryn Roeder, Mark J Daly. PLoS Genet 2011
415
5

Searching for missing heritability: designing rare variant association studies.
Or Zuk, Stephen F Schaffner, Kaitlin Samocha, Ron Do, Eliana Hechter, Sekar Kathiresan, Mark J Daly, Benjamin M Neale, Shamil R Sunyaev, Eric S Lander. Proc Natl Acad Sci U S A 2014
345
5


The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
645
5

Predicting the functional effect of amino acid substitutions and indels.
Yongwook Choi, Gregory E Sims, Sean Murphy, Jason R Miller, Agnes P Chan. PLoS One 2012
5

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
831
5

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
5

Sequencing of 50 human exomes reveals adaptation to high altitude.
Xin Yi, Yu Liang, Emilia Huerta-Sanchez, Xin Jin, Zha Xi Ping Cuo, John E Pool, Xun Xu, Hui Jiang, Nicolas Vinckenbosch, Thorfinn Sand Korneliussen,[...]. Science 2010
824
5

A polygenic burden of rare disruptive mutations in schizophrenia.
Shaun M Purcell, Jennifer L Moran, Menachem Fromer, Douglas Ruderfer, Nadia Solovieff, Panos Roussos, Colm O'Dushlaine, Kimberly Chambert, Sarah E Bergen, Anna Kähler,[...]. Nature 2014
883
5

Identifying a high fraction of the human genome to be under selective constraint using GERP++.
Eugene V Davydov, David L Goode, Marina Sirota, Gregory M Cooper, Arend Sidow, Serafim Batzoglou. PLoS Comput Biol 2010
869
5

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
5


A second generation human haplotype map of over 3.1 million SNPs.
Kelly A Frazer, Dennis G Ballinger, David R Cox, David A Hinds, Laura L Stuve, Richard A Gibbs, John W Belmont, Andrew Boudreau, Paul Hardenbol, Suzanne M Leal,[...]. Nature 2007
5

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.
Annalisa Buniello, Jacqueline A L MacArthur, Maria Cerezo, Laura W Harris, James Hayhurst, Cinzia Malangone, Aoife McMahon, Joannella Morales, Edward Mountjoy, Elliot Sollis,[...]. Nucleic Acids Res 2019
885
5

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
67
7

Pooled association tests for rare variants in exon-resequencing studies.
Alkes L Price, Gregory V Kryukov, Paul I W de Bakker, Shaun M Purcell, Jeff Staples, Lee-Jen Wei, Shamil R Sunyaev. Am J Hum Genet 2010
553
4


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.