A citation-based method for searching scientific literature

Saumya Shekhar Jamuar, Ene-Choo Tan. Hum Genomics 2015
Times Cited: 51







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



Times Cited
  Times     Co-cited
Similarity


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
31

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
23


Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
17

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
15

Exome sequencing as a tool for Mendelian disease gene discovery.
Michael J Bamshad, Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure. Nat Rev Genet 2011
15

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
15

ACMG clinical laboratory standards for next-generation sequencing.
Heidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, Jonathan S Berg, Kerry K Brown, Joshua L Deignan, Michael J Friez, Birgit H Funke, Madhuri R Hegde, Elaine Lyon. Genet Med 2013
508
13

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
747
13

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
533
13

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
13

DNA sequencing with chain-terminating inhibitors.
F Sanger, S Nicklen, A R Coulson. Proc Natl Acad Sci U S A 1977
11

Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
11

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
11

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
740
11

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
Kym M Boycott, Megan R Vanstone, Dennis E Bulman, Alex E MacKenzie. Nat Rev Genet 2013
399
9

Genome sequencing in microfabricated high-density picolitre reactors.
Marcel Margulies, Michael Egholm, William E Altman, Said Attiya, Joel S Bader, Lisa A Bemben, Jan Berka, Michael S Braverman, Yi-Ju Chen, Zhoutao Chen,[...]. Nature 2005
9

Accurate whole human genome sequencing using reversible terminator chemistry.
David R Bentley, Shankar Balasubramanian, Harold P Swerdlow, Geoffrey P Smith, John Milton, Clive G Brown, Kevin P Hall, Dirk J Evers, Colin L Barnes, Helen R Bignell,[...]. Nature 2008
9

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
9

Sequencing technologies - the next generation.
Michael L Metzker. Nat Rev Genet 2010
9

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
9

Ten years of next-generation sequencing technology.
Erwin L van Dijk, Hélène Auger, Yan Jaszczyszyn, Claude Thermes. Trends Genet 2014
576
9

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam,[...]. Genet Med 2018
163
9

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais,[...]. Clin Genet 2016
193
9

Guidelines for diagnostic next-generation sequencing.
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss,[...]. Eur J Hum Genet 2016
212
9

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Sebastian Köhler, Sandra C Doelken, Christopher J Mungall, Sebastian Bauer, Helen V Firth, Isabelle Bailleul-Forestier, Graeme C M Black, Danielle L Brown, Michael Brudno, Jennifer Campbell,[...]. Nucleic Acids Res 2014
430
7

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.
Justin M Zook, Brad Chapman, Jason Wang, David Mittelman, Oliver Hofmann, Winston Hide, Marc Salit. Nat Biotechnol 2014
400
7

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
7

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
7

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.
Adam Siepel, Gill Bejerano, Jakob S Pedersen, Angie S Hinrichs, Minmei Hou, Kate Rosenbloom, Hiram Clawson, John Spieth, Ladeana W Hillier, Stephen Richards,[...]. Genome Res 2005
7

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H Hoefsloot, Erik-Jan Kamsteeg, Arjen R Mensenkamp, Richard J T Rodenburg, Helger G Yntema, Liesbeth Spruijt, Sascha Vermeer,[...]. Hum Mutat 2013
207
7

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.
Chengliang Dong, Peng Wei, Xueqiu Jian, Richard Gibbs, Eric Boerwinkle, Kai Wang, Xiaoming Liu. Hum Mol Genet 2015
449
7

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
7

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Mark B Consugar, Daniel Navarro-Gomez, Emily M Place, Kinga M Bujakowska, Maria E Sousa, Zoë D Fonseca-Kelly, Daniel G Taub, Maria Janessian, Dan Yi Wang, Elizabeth D Au,[...]. Genet Med 2015
127
7

High-throughput sequencing technologies.
Jason A Reuter, Damek V Spacek, Michael P Snyder. Mol Cell 2015
339
7

Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges.
Rajyalakshmi Luthra, Hui Chen, Sinchita Roy-Chowdhuri, R Rajesh Singh. Cancers (Basel) 2015
72
7

Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection.
Daniel C Koboldt, David E Larson, Richard K Wilson. Curr Protoc Bioinformatics 2013
100
7

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth. Genet Med 2018
155
7

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
Peter N Robinson, Sebastian Köhler, Sebastian Bauer, Dominik Seelow, Denise Horn, Stefan Mundlos. Am J Hum Genet 2008
439
5

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
Ada Hamosh, Alan F Scott, Joanna S Amberger, Carol A Bocchini, Victor A McKusick. Nucleic Acids Res 2005
5

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Aziz Belkadi, Alexandre Bolze, Yuval Itan, Aurélie Cobat, Quentin B Vincent, Alexander Antipenko, Lei Shang, Bertrand Boisson, Jean-Laurent Casanova, Laurent Abel. Proc Natl Acad Sci U S A 2015
223
5

Target-enrichment strategies for next-generation sequencing.
Lira Mamanova, Alison J Coffey, Carol E Scott, Iwanka Kozarewa, Emily H Turner, Akash Kumar, Eleanor Howard, Jay Shendure, Daniel J Turner. Nat Methods 2010
627
5

Next-generation DNA sequencing.
Jay Shendure, Hanlee Ji. Nat Biotechnol 2008
5


Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.
Jan P Schouten, Cathal J McElgunn, Raymond Waaijer, Danny Zwijnenburg, Filip Diepvens, Gerard Pals. Nucleic Acids Res 2002
5

HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
John T Hinson, Anant Chopra, Navid Nafissi, William J Polacheck, Craig C Benson, Sandra Swist, Joshua Gorham, Luhan Yang, Sebastian Schafer, Calvin C Sheng,[...]. Science 2015
254
5

Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
Kobra Haghighi, Fotis Kolokathis, Luke Pater, Roy A Lynch, Michio Asahi, Anthony O Gramolini, Guo-Chang Fan, Dimitris Tsiapras, Harvey S Hahn, Stamatis Adamopoulos,[...]. J Clin Invest 2003
268
5

Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases.
Perry Elliott, Bert Andersson, Eloisa Arbustini, Zofia Bilinska, Franco Cecchi, Philippe Charron, Olivier Dubourg, Uwe Kühl, Bernhard Maisch, William J McKenna,[...]. Eur Heart J 2008
5

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy.
Jodie Ingles, Julie McGaughran, Paul A Scuffham, John Atherton, Christopher Semsarian. Heart 2012
68
5

Advancements in Next-Generation Sequencing.
Shawn E Levy, Richard M Myers. Annu Rev Genomics Hum Genet 2016
165
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.