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Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes

Publicated to: - 2020-11-17 (), DOI: 10.1101/2020.11.13.20221812

Authors: Jennifer Wessel; Timothy D. Majarian; Heather M. Highland; Sridharan Raghavan; Mindy D Szeto; Natalie R. Hasbani; Paul S. de Vries; Jennifer A. Brody; Chloé Sarnowski; Daniel DiCorpo; Xianyong Yin; Bertha Hidalgo; Xiuqing Guo; James A. Perry; Jeffrey R. O’Connell; Samantha Lent; May E. Montasser; Brian E. Cade; Deepti Jain; Heming Wang; Peitao Wu; Sílvia Bonàs‐Guarch; Ricardo D’Oliveira Albanus; Aaron Leong; Irene Miguel-Escalada; Arushi Varshney; Gregory L. Kinney; Lisa R. Yanek; Leslie A. Lange; Marcio Almeida; Juan M. Peralta; Stella Aslibekyan; Abigail S. Baldridge; Alain G. Bertoni; Lawrence F. Bielak; Donald W. Bowden; Chung-Shiuan Chen; Yii‐Der Ida Chen; Seung Hoan Choi; Won Jung Choi; Dawood Darbar; James S. Floyd; Barry I. Freedman; Mark O. Goodarzi; Ryan Irvin; Rita R. Kalyani; Tanika N. Kelly; Seonwook Lee; Yongmei Liu; Douglas P. Loesch; JoAnn E. Manson; Rami Nassir; Nicholette D. Palmer; James S. Pankow; Laura J. Rasmussen‐Torvik; Alexander P. Reiner; Elizabeth Selvin; Aladdin H. Shadyab; Jennifer A. Smith; Daniel E. Weeks; Lu‐Chen Weng; Huichun Xu; Jie Yao; Zachary T. Yoneda; Wei Zhao; Jorge Ferrer; Anubha Mahajan; Mark I. McCarthy; Stephen Parker; Álvaro Alonso; Donna K. Arnett; John Blangero; Eric Boerwinkle; Michael H. Cho; Adolfo Correa; L. Adrienne Cupples; Joanne E. Curran; Ravindranath Duggirala; Patrick T. Ellinor; Jiang He; Susan R. Heckbert; Sharon LR Kardia; Ryan W. Kim; Charles Kooperberg; Simin Liu; Steven A. Lubitz; Rasika A. Mathias; Stephen T. McGarvey; Braxton D. Mitchell; Alanna C. Morrison; Patricia A. Peyser; Bruce M. Psaty; Susan Redline; Dan M. Roden; Emelia J. Benjamin; Nicholas L. Smith; Kent D. Taylor; Ramachandran S. Vasan; Karine A. Viaud-Martinez; José C. Florez; James Wilson; Robert Sladek; Josée Dupuis; Stephen S. Rich; Jerome I. Rotter; James B. Meigs; Alisa K. Manning

Affiliations

Baltimore VA Medical Center - Author
Beth Israel Deaconess Medical Center - Author
Boston University - Author
Brigham and Women's Hospital - Author
Broad Institute - Author
Brown University - Author
Cedars-Sinai Medical Center - Author
Centre for Genomic Regulation - Author
Centro de Investigacion Biomedica en Red Diabetes y Enfermedades Metabolicas Asociadas - Author
Emory University - Author
Framingham Heart Study - Author
Fred Hutch Cancer Center - Author
Harbor–UCLA Medical Center - Author
Harvard University - Author
Imperial College London - Author
Indiana University - Author
Johns Hopkins Medicine - Author
Johns Hopkins University - Author
Massachusetts General Hospital - Author
Northwestern University - Author
Providence College - Author
The University of Texas Health Science Center at Houston - Author
Tulane University - Author
UCLA Medical Center - Author
University of Alabama at Birmingham - Author
University of California, San Diego - Author
University of Colorado Anschutz Medical Campus - Author
University of Colorado Denver - Author
University of Kentucky - Author
University of Maryland, Baltimore - Author
University of Michigan–Ann Arbor - Author
University of Minnesota - Author
University of Mississippi Medical Center - Author
University of North Carolina at Chapel Hill - Author
University of Oxford - Author
University of Pittsburgh - Author
University of Virginia - Author
University of Washington - Author
Vanderbilt University Medical Center - Author
Wake Forest University - Author
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Abstract

,

Keywords

Good health and well-being

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 2.23, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-10, the following number of citations:

  • OpenCitations: 5

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-10:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 20.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 21 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 2.35.
  • The number of mentions on the social network X (formerly Twitter): 5 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.