@article{DBLP:journals/nature/CollinsBKZAFKLG20,
author = {Ryan L. Collins and
Harrison Brand and
Konrad J. Karczewski and
Xuefang Zhao and
Jessica Alf{\"{o}}ldi and
Laurent C. Francioli and
Amit V. Khera and
Chelsea Lowther and
Laura D. Gauthier and
Harold Wang and
Nicholas A. Watts and
Matthew Solomonson and
Alexander Baumann and
Ruchi Munshi and
Mark Walker and
Christopher W. Whelan and
Yongqing Huang and
Ted Brookings and
Ted Sharpe and
Matthew R. Stone and
Elise Valkanas and
Jack Fu and
Grace Tiao and
Kristen M. Laricchia and
Valent{\'{\i}}n Ruano{-}Rubio and
Christine Stevens and
Namrata Gupta and
Caroline Cusick and
Lauren Margolin and
Irina M. Armean and
Eric Banks and
Louis Bergelson and
Kristian Cibulskis and
Kristen M. Connolly and
Miguel Covarrubias and
Beryl B. Cummings and
Mark J. Daly and
Stacey Donnelly and
Yossi Farjoun and
Steven Ferriera and
Stacey Gabriel and
Jeff Gentry and
Thibault Jeandet and
Diane Kaplan and
Christopher Llanwarne and
Eric V. Minikel and
Benjamin M. Neale and
Sam Novod and
Anne H. O'Donnell{-}Luria and
Nikelle Petrillo and
Timothy Poterba and
David Roazen and
Andrea Saltzman and
Kaitlin E. Samocha and
Molly Schleicher and
Cotton Seed and
Jos{\'{e}} Soto and
Kathleen Tibbetts and
Charlotte Tolonen and
Christopher Vittal and
Gordon Wade and
Arcturus Wang and
Qingbo Wang and
James S. Ware and
Ben Weisburd and
Nicola Whiffin and
Carlos A. Aguilar Salinas and
Tariq Ahmad and
Christine M. Albert and
Diego Ardissino and
Gil Atzmon and
John Barnard and
Laurent Beaugerie and
Emelia J. Benjamin and
Michael Boehnke and
Lori L. Bonnycastle and
Erwin P. Bottinger and
Donald W. Bowden and
Matthew J. Bown and
John C. Chambers and
Juliana C. Chan and
Daniel Chasman and
Judy Cho and
Mina K. Chung and
Bruce Cohen and
Adolfo Correa and
Dana Dabelea and
Dawood Darbar and
Ravindranath Duggirala and
Jos{\'{e}}e Dupuis and
Patrick T. Ellinor and
Roberto Elosua and
Jeanette Erdmann and
T{\~{o}}nu Esko and
Martti F{\"{a}}rkkil{\"{a}} and
Jose Florez and
Andre Franke and
Gad Getz and
Benjamin Glaser and
Stephen J. Glatt and
David Goldstein and
Clicerio Gonzalez and
Leif Groop and
Christopher A. Haiman and
Craig Hanis and
Matthew Harms and
Mikko Hiltunen and
Matti M. Holi and
Christina M. Hultman and
Mikko Kallela and
Jaakko Kaprio and
Sekar Kathiresan and
Bong{-}Jo Kim and
Young Jin Kim and
George Kirov and
Jaspal Kooner and
Seppo Koskinen and
Harlan M. Krumholz and
Subra Kugathasan and
Soo Heon Kwak and
Markku Laakso and
Terho Lehtim{\"{a}}ki and
Ruth J. F. Loos and
Steven A. Lubitz and
Ronald C. W. Ma and
Daniel G. MacArthur and
Jaume Marrugat and
Kari M. Mattila and
Steven A. McCarroll and
Mark I. McCarthy and
Dermot McGovern and
Ruth McPherson and
James B. Meigs and
Olle Melander and
Andres Metspalu and
Peter M. Nilsson and
Michael C. O'Donovan and
Dost {\"{O}}ng{\"{u}}r and
Lorena Orozco and
Michael J. Owen and
Colin N. A. Palmer and
Aarno Palotie and
Kyong Soo Park and
Carlos Pato and
Ann E. Pulver and
Nazneen Rahman and
Anne M. Remes and
John D. Rioux and
Samuli Ripatti and
Dan M. Roden and
Danish Saleheen and
Veikko Salomaa and
Nilesh J. Samani and
Jeremiah Scharf and
Heribert Schunkert and
Moore B. Shoemaker and
Pamela Sklar and
Hilkka Soininen and
Harry Sokol and
Tim Spector and
Patrick F. Sullivan and
Jaana Suvisaari and
E. Shyong Tai and
Yik Ying Teo and
Tuomi Tiinamaija and
Ming Tsuang and
Dan Turner and
Teresa Tusie{-}Luna and
Erkki Vartiainen and
Hugh Watkins and
Rinse K. Weersma and
Maija Wessman and
James G. Wilson and
Ramnik J. Xavier and
Kent D. Taylor and
Henry J. Lin and
Stephen S. Rich and
Wendy S. Post and
Yii{-}Der Ida Chen and
Jerome I. Rotter and
Chad Nusbaum and
Anthony A. Philippakis and
Eric S. Lander and
Michael E. Talkowski},
title = {A structural variation reference for medical and population genetics},
journal = {Nat.},
volume = {581},
number = {7809},
pages = {444--451},
year = {2020},
url = {https://doi.org/10.1038/s41586-020-2287-8},
doi = {10.1038/S41586-020-2287-8},
timestamp = {Wed, 16 Oct 2024 01:00:00 +0200},
biburl = {https://dblp.org/rec/journals/nature/CollinsBKZAFKLG20.bib},
bibsource = {dblp computer science bibliography, https://dblp.org}
}
@article{DBLP:journals/bioinformatics/DuSPGFINLWPNDPM19,
author = {Juanjiangmeng Du and
Monica Sudarsanam and
Eduardo P{\'{e}}rez{-}Palma and
Andrea Ganna and
Laurent C. Francioli and
Sumaiya Iqbal and
Lisa{-}Marie Niestroj and
Costin Leu and
Ben Weisburd and
Timothy Poterba and
Peter N{\"{u}}rnberg and
Mark J. Daly and
Aarno Palotie and
Patrick May and
Dennis Lal},
title = {Variant Score Ranker - a web application for intuitive missense variant
prioritization},
journal = {Bioinform.},
volume = {35},
number = {21},
pages = {4478--4479},
year = {2019},
url = {https://doi.org/10.1093/bioinformatics/btz252},
doi = {10.1093/BIOINFORMATICS/BTZ252},
timestamp = {Thu, 14 Oct 2021 01:00:00 +0200},
biburl = {https://dblp.org/rec/journals/bioinformatics/DuSPGFINLWPNDPM19.bib},
bibsource = {dblp computer science bibliography, https://dblp.org}
}
