Upload Records Snowball Search Search OpenAlex
About the database ScholarIQanswers from OpenAlex
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.
67,253
Works
812,554
Citations
IDs:OpenAlex
How has Genomics and Rare Diseases's publication output changed over time?
ScholarIQpublication output · 2015–2020
Output grew0% over the shown period — from 1 works in 2015 to 1 in 2020.
1
1
20152020
Who are the most-cited researchers behind Genomics and Rare Diseases?
ScholarIQtop researchers by citations
What are the most-cited papers on Genomics and Rare Diseases?
ScholarIQmost cited works
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. 202010,253 CitationsOPEN ACCESS
ClinVar: public archive of interpretations of clinically relevant variants
Melissa Landrum, Jennifer M. Lee, Mark J. Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey P. Hoover, Wonhee Jang, Kenneth Katz, Michael Ovetsky, George Riley, Amanjeev Sethi, Ray Tully, Ricardo Villamarín-Salomón, Wendy S. Rubinstein, Donna Maglott
Nucleic Acids Research. 20152,906 CitationsOPEN ACCESS
Where is Genomics and Rare Diseases research published, and who funds it?
ScholarIQvenues & funding sources
TOP JOURNALS
Nature10,253
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
100%OPEN ACCESS
Gold
50%
Green
0%
Hybrid
50%
Bronze
0%
Closed
0%
Who collaborates most closely around Genomics and Rare Diseases?
ScholarIQco-authorship network
United States
100%
MOST FREQUENT PARTNER INSTITUTIONS