A citation-based method for searching scientific literature

Kristen M Laricchia, Nicole J Lake, Nicholas A Watts, Megan Shand, Andrea Haessly, Laura Gauthier, David Benjamin, Eric Banks, Jose Soto, Kiran Garimella, James Emery, Heidi L Rehm, Daniel G MacArthur, Grace Tiao, Monkol Lek, Vamsi K Mootha, Sarah E Calvo. Genome Res 2022
Times Cited: 4







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



Times Cited
  Times     Co-cited
Similarity


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
288
50

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
50

Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Rajarshi Ghosh, Steven M Harrison, Heidi L Rehm, Sharon E Plon, Leslie G Biesecker. Hum Mutat 2018
42
50

A structural variation reference for medical and population genetics.
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang,[...]. Nature 2020
210
50

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Colleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, Beryl B Cummings, Ben Weisburd, Eric V Minikel, Daniel P Birnbaum, Tatiana Tvrdik, Daniel G MacArthur, Rong Mao. Hum Mutat 2017
33
50

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
50

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
50


HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing.
Hansi Weissensteiner, Dominic Pacher, Anita Kloss-Brandstätter, Lukas Forer, Günther Specht, Hans-Jürgen Bandelt, Florian Kronenberg, Antonio Salas, Sebastian Schönherr. Nucleic Acids Res 2016
376
50

The complete sequence of a human genome.
Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V Bzikadze, Alla Mikheenko, Mitchell R Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman,[...]. Science 2022
74
50

Extreme heterogeneity of human mitochondrial DNA from organelles to populations.
James B Stewart, Patrick F Chinnery. Nat Rev Genet 2021
44
50

mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud.
Hansi Weissensteiner, Lukas Forer, Christian Fuchsberger, Bernd Schöpf, Anita Kloss-Brandstätter, Günther Specht, Florian Kronenberg, Sebastian Schönherr. Nucleic Acids Res 2016
82
50

The genomic landscape of polymorphic human nuclear mitochondrial insertions.
Gargi Dayama, Sarah B Emery, Jeffrey M Kidd, Ryan E Mills. Nucleic Acids Res 2014
98
50

Contamination detection in sequencing studies using the mitochondrial phylogeny.
Hansi Weissensteiner, Lukas Forer, Liane Fendt, Azin Kheirkhah, Antonio Salas, Florian Kronenberg, Sebastian Schoenherr. Genome Res 2021
10
50

Twelve years of SAMtools and BCFtools.
Petr Danecek, James K Bonfield, Jennifer Liddle, John Marshall, Valeriu Ohan, Martin O Pollard, Andrew Whitwham, Thomas Keane, Shane A McCarthy, Robert M Davies,[...]. Gigascience 2021
480
50

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines.
Steven M Harrison, Leslie G Biesecker, Heidi L Rehm. Curr Protoc Hum Genet 2019
27
25

Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.
Michel S Naslavsky, Marília O Scliar, Kelly Nunes, Jaqueline Y T Wang, Guilherme L Yamamoto, Heinner Guio, Eduardo Tarazona-Santos, Yeda A O Duarte, Maria Rita Passos-Bueno, Diogo Meyer,[...]. Am J Med Genet C Semin Med Genet 2021
2
50

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
25

Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data.
Maui Hudson, Nanibaa' A Garrison, Rogena Sterling, Nadine R Caron, Keolu Fox, Joseph Yracheta, Jane Anderson, Phil Wilcox, Laura Arbour, Alex Brown,[...]. Nat Rev Genet 2020
51
25

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Sanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna,[...]. Nature 2021
6
25

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Qingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, Jessica Alföldi, Laurent C Francioli, Laura D Gauthier, Andrew J Hill, Anne H O'Donnell-Luria, Konrad J Karczewski, Daniel G MacArthur. Nat Commun 2020
53
25

A fast and symmetric DUST implementation to mask low-complexity DNA sequences.
Aleksandr Morgulis, E Michael Gertz, Alejandro A Schäffer, Richa Agarwala. J Comput Biol 2006
252
25

PhyloCSF: a comparative genomics method to distinguish protein coding and non-coding regions.
Michael F Lin, Irwin Jungreis, Manolis Kellis. Bioinformatics 2011
598
25

Age-related clonal hematopoiesis associated with adverse outcomes.
Siddhartha Jaiswal, Pierre Fontanillas, Jason Flannick, Alisa Manning, Peter V Grauman, Brenton G Mar, R Coleman Lindsley, Craig H Mermel, Noel Burtt, Alejandro Chavez,[...]. N Engl J Med 2014
25

Mutagenic deamination of cytosine residues in DNA.
B K Duncan, J H Miller. Nature 1980
582
25


Quantifying prion disease penetrance using large population control cohorts.
Eric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, Karol Estrada, Kaitlin E Samocha, J Fah Sathirapongsasuti, Cory Y McLean, Joyce Y Tung, Linda P C Yu, Pierluigi Gambetti,[...]. Sci Transl Med 2016
196
25

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
312
25

Transcript expression-aware annotation improves rare variant interpretation.
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, Eleanor G Seaby, Nicholas A Watts, Moriel Singer-Berk, Jonathan M Mudge, Juha Karjalainen, F Kyle Satterstrom, Anne H O'Donnell-Luria,[...]. Nature 2020
50
25


The human genome browser at UCSC.
W James Kent, Charles W Sugnet, Terrence S Furey, Krishna M Roskin, Tom H Pringle, Alan M Zahler, David Haussler. Genome Res 2002
25

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders, Kamil Slowikowski, Monkol Lek, Konrad J Karczewski, David J Cutler, Bernie Devlin, Kathryn Roeder,[...]. Nat Genet 2017
179
25

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
644
25

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
25

Guidelines for investigating causality of sequence variants in human disease.
D G MacArthur, T A Manolio, D P Dimmock, H L Rehm, J Shendure, G R Abecasis, D R Adams, R B Altman, S E Antonarakis, E A Ashley,[...]. Nature 2014
824
25

Using high-resolution variant frequencies to empower clinical genome interpretation.
Nicola Whiffin, Eric Minikel, Roddy Walsh, Anne H O'Donnell-Luria, Konrad Karczewski, Alexander Y Ing, Paul J R Barton, Birgit Funke, Stuart A Cook, Daniel MacArthur,[...]. Genet Med 2017
211
25

Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space.
Michael C Schatz, Anthony A Philippakis, Enis Afgan, Eric Banks, Vincent J Carey, Robert J Carroll, Alessandro Culotti, Kyle Ellrott, Jeremy Goecks, Robert L Grossman,[...]. Cell Genom 2022
9
25

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.
Eleanor G Seaby, Heidi L Rehm, Anne O'Donnell-Luria. Front Genet 2021
4
25

NCBI's Database of Genotypes and Phenotypes: dbGaP.
Kimberly A Tryka, Luning Hao, Anne Sturcke, Yumi Jin, Zhen Y Wang, Lora Ziyabari, Moira Lee, Natalia Popova, Nataliya Sharopova, Masato Kimura,[...]. Nucleic Acids Res 2014
257
25

Initial sequencing and analysis of the human genome.
E S Lander, L M Linton, B Birren, C Nusbaum, M C Zody, J Baldwin, K Devon, K Dewar, M Doyle, W FitzHugh,[...]. Nature 2001
25

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
222
25

Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.
Joseph H Oved, Daria V Babushok, Michele P Lambert, Nicole Wolfset, M Anna Kowalska, Mortimer Poncz, Konrad J Karczewski, Timothy S Olson. Blood Adv 2020
2
50

The UCSC Genome Browser database: 2021 update.
Jairo Navarro Gonzalez, Ann S Zweig, Matthew L Speir, Daniel Schmelter, Kate R Rosenbloom, Brian J Raney, Conner C Powell, Luis R Nassar, Nathan D Maulding, Christopher M Lee,[...]. Nucleic Acids Res 2021
114
25

Mendelian Gene Discovery: Fast and Furious with No End in Sight.
Michael J Bamshad, Deborah A Nickerson, Jessica X Chong. Am J Hum Genet 2019
74
25

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.
Christopher A Cassa, Donate Weghorn, Daniel J Balick, Daniel M Jordan, David Nusinow, Kaitlin E Samocha, Anne O'Donnell-Luria, Daniel G MacArthur, Mark J Daly, David R Beier,[...]. Nat Genet 2017
62
25

Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Joanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J Arvai, Ruth Y Eberhardt, Giuseppe Gallone, Stefan H Lelieveld, Hilary C Martin, Jeremy F McRae,[...]. Nature 2020
100
25

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
25

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
25

Variant Review with the Integrative Genomics Viewer.
James T Robinson, Helga Thorvaldsdóttir, Aaron M Wenger, Ahmet Zehir, Jill P Mesirov. Cancer Res 2017
379
25

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant,[...]. Nat Genet 2017
341
25


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.