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Genomics and Rare Diseases

TopicLeading institutions, researchers & key papers

This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants.

282
Works

How has Genomics and Rare Diseases's publication output changed over time?

ScholarIQpublication output · 2003–2020

Output grew200% over the shown period — from 1 works in 2003 to 3 in 2020.

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2
1
2
1
1
1
1
1
3
2003201020112012201420152016201720182020

What are the most-cited papers on Genomics and Rare Diseases?

ScholarIQmost cited works
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang, Man Li, Håkon Håkonarson
S134668137. 201015,842 CitationsOPEN ACCESS
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 S. Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, Moriel Singer‐Berk, Eleina England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce‐Hoffman, Zachary Zappala, Anne O’Donnell‐Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Molly Schleicher, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tõnu Esko, Martti Färkkilâ, José C. Florez, André Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein, Clicerio González, Leif Groop
Nature. 202010,295 CitationsOPEN ACCESS
A map of human genome variation from population-scale sequencing
Richard Durbin, John Burton, David M. Carter, Carol Churcher, Coffey Ak, Anthony Cox, A Palotie, Michael Quail, Tom Skelly, James Stalker, Harold P. Swerdlow, Daniel Turner, Qasim Ayub, Senduran Balasubramaniam, Jeffrey C. Barrett, Yuan Chen, Donald F. Conrad, Petr Danecek, Min Hu, Ni Huang, Matt Hurles, Luke Jostins, Thomas Keane, Si Quang Le, Sarah Lindsay, Quan Long, Daniel G. MacArthur, Leopold Parts, C Tyler-Smith, Klaudia Walter, Yali Xue, Yujun Zhang, Allison Coffey, Carol Scott, Stacey B. Gabriel, Eric S. Lander, David Altshuler, Lauren Ambrogio, Toby Bloom, Kristian Cibulskis, Tim Fennell, David B. Jaffe, Erica Shefler, Carrie Sougnez, Aaron D. Ball, Eric Banks, Kiran Garimella, Sharon R. Grossman, Robert E. Handsaker, Matt Hanna, Chris Hartl, Andrew Kernytsky, Joshua M. Korn, H Li, Jared R. Maguire, S A McCarroll, Aaron McKenna, James Nemesh, Anthony A. Philippakis, Ryan Poplin, Manuel A. Rivas, Sabeti Pc, S. F. Schaffner, Ilya Shlyakhter, Mark A. DePristo, Jane Wilkinson, Paul Anderson, Tom Blackwell, Wei Chen, Jun Ding, Hyun Min Kang, Carlo Sidore, Matthew Snyder, Xiaowei Zhan, S Zollner, Gonçalo R. Abecasis, David R. Bentley, Ñ Lauren Gormley, Sean Humphray, Zoya Kingsbury, Paula Kokko‐Gonzales, Jennifer Stone, R. Keira Cheetham, Tony Cox, Michael Eberle, Terena James, Scott Kahn, Lisa Murray, A Chakravarti, Andrew G. Clark, Jeremiah Degenhardt, Collins Fs, Francisco M. De La Vega, Fiona Hyland, Onur Sakarya, Yongming A. Sun, Peter Donnelly, Gil A. McVean, Adam Auton, Zamin Iqbal
Nature. 20108,118 CitationsOPEN ACCESS
The International HapMap Project
Richard A. Gibbs, John W. Belmont, Paul Hardenbol, T. D. Willis, Fuli Yu, Huanming Yang, Lan-Yang Ch'ang, Wei Huang, Bin Liu, Yan Shen, Paul Kwong Hang Tam, Lap-Chee Tsui, Mary Miu Yee Waye, J. Tze‐Fei Wong, Changqing Zeng, Qingrun Zhang, Illumina, Mark S. Chee, Luana Galver, Semyon Kruglyak, Sarah S. Murray, Arnold Oliphant, Alexandre Montpetit, Thomas J. Hudson, Fanny Chagnon, Vincent Ferretti, Martin Leboeuf, Michael Phillips, Andrei Verner, Pui-Yan Kwok, Shenghui Duan, Denise L. Lind, Raymond D. Miller, John P. Rice, Nancy L. Saccone, Patricia Taillon‐Miller, Ming Xiao, Yusuke Nakamura, Akihiro Sekine, Koki Sorimachi, Toshihiro Tanaka, Yoïchi Tanaka, Tatsuhiko Tsunoda, Eiji Yoshino, David Bentley, Panos Deloukas, Sarah Hunt, Don Powell, David Altshuler, Stacey B. Gabriel, Houcan Zhang, Changqing Zeng, Ichiro Matsuda, Yoshimitsu Fukushima, Darryl Macer, Eiko Suda, Charles N. Rotimi, Clement Adebamowo, Toyin Aniagwu, Patricia A. Marshall, Olayemi Matthew, Chibuzor Nkwodimmah, Charmaine D. M. Royal, Mark Leppert, Missy Dixon, Lincoln D. Stein, Fiona Cunningham, Ardavan Kanani, Guðmundur Á. Þórisson, Aravinda Chakravarti, Peter E. Chen, David J. Cutler, Carl Kashuk, Peter Donnelly, Jonathan Marchini, Gil McVean, Simon Myers, Lon R. Cardon, Gonçalo R. Abecasis, Andrew P. Morris, Bruce S. Weir, James C. Mullikin, Stephen T. Sherry, Michael Feolo, David Altshuler, Mark Daly, Stephen F. Schaffner, Ren-Zong Qiu, Genetic Interest Group, Alastair Kent, Georgia M. Dunston, Kazuto Kato, Norio Niikawa, Bartha Maria Knoppers, Morris W. Foster, Ellen Wright Clayton, Vivian Ota Wang, Wellcome Trust, Jessica Watkin, Richard A. Gibbs
Nature. 20036,188 CitationsOPEN ACCESS
Classification of primary progressive aphasia and its variants
Maria‐Luisa Gorno‐Tempini, Argye E. Hillis, Sandra Weıntraub, Andrew Kertesz, Mario F. Mendez, Stefano F. Cappa, J. Ogar, Jonathan D. Rohrer, Sandra E. Black, Bradley F. Boeve, Facundo Manes, Nina F. Dronkers, Rik Vandenberghe, Katya Rascovsky, Karalyn Patterson, Bruce L. Miller, David S. Knopman, J. R. Hodges, Marsel Mesulam, Owen A. Ross
Neurology. 20115,169 CitationsOPEN ACCESS

Where is Genomics and Rare Diseases research published, and who funds it?

ScholarIQvenues & funding sources

TOP JOURNALS

Nature25,877
S13466813715,842
Science1,343

TOP FUNDERS

National Science Foundation
NIH
Wellcome Trust
European Research Council
Funder breakdown is a member featureSign up free to unlock

How much of the research on Genomics and Rare Diseases is open access?

ScholarIQopen access share
87%OPEN ACCESS
Gold
13%
Green
27%
Hybrid
33%
Bronze
13%
Closed
13%

Related on ScholarIQ

A global reference for human genetic variation
Paper
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Paper
The mutational constraint spectrum quantified from variation in 141,456 humans
Paper
An integrated map of genetic variation from 1,092 human genomes
Paper
A map of human genome variation from population-scale sequencing
Paper
The International HapMap Project
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