Literature DB >> 31604268

Translational genomics and precision medicine: Moving from the lab to the clinic.

Eleftheria Zeggini1, Anna L Gloyn2,3,4, Anne C Barton5,6, Louise V Wain7,8.   

Abstract

Translational genomics aims to improve human health by building on discoveries made through genetics research and applying them in the clinical setting. This progress has been made possible by technological advances in genomics and analytics and by the digital revolution. Such advances should enable the development of prognostic markers, tailored interventions, and the design of prophylactic preventive approaches. We are at the cusp of predicting disease risk for some disorders by means of polygenic risk scores integrated with classical epidemiological risk factors. This should lead to better risk stratification and clinical decision-making. A deeper understanding of the link between genome-wide sequence and association with well-characterized phenotypes will empower the development of biomarkers to aid diagnosis, inform disease progression trajectories, and allow better targeting of treatments to those patients most likely to respond.
Copyright © 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

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Year:  2019        PMID: 31604268     DOI: 10.1126/science.aax4588

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  39 in total

1.  Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics.

Authors:  Karthik A Jagadeesh; Kushal K Dey; Daniel T Montoro; Rahul Mohan; Steven Gazal; Jesse M Engreitz; Ramnik J Xavier; Alkes L Price; Aviv Regev
Journal:  Nat Genet       Date:  2022-09-29       Impact factor: 41.307

Review 2.  Genomic medicine on the frontier of precision medicine.

Authors:  Mandana Hasanzad; Negar Sarhangi; Anoosh Naghavi; Ehsan Ghavimehr; Fatemeh Khatami; Sima Ehsani Chimeh; Bagher Larijani; Hamid Reza Aghaei Meybodi
Journal:  J Diabetes Metab Disord       Date:  2021-08-24

3.  Genomic instability genes in lung and colon adenocarcinoma indicate organ specificity of transcriptomic impact on Copy Number Alterations.

Authors:  Chinthalapally V Rao; Chao Xu; Yuting Zhang; Adam S Asch; Hiroshi Y Yamada
Journal:  Sci Rep       Date:  2022-07-11       Impact factor: 4.996

4.  Framework and baseline examination of the German National Cohort (NAKO).

Authors:  Annette Peters; Annette Peters; Karin Halina Greiser; Susanne Göttlicher; Wolfgang Ahrens; Maren Albrecht; Fabian Bamberg; Till Bärnighausen; Heiko Becher; Klaus Berger; Achim Beule; Heiner Boeing; Barbara Bohn; Kerstin Bohnert; Bettina Braun; Hermann Brenner; Robin Bülow; Stefanie Castell; Antje Damms-Machado; Marcus Dörr; Nina Ebert; Margit Ecker; Carina Emmel; Beate Fischer; Claus-Werner Franzke; Sylvia Gastell; Guido Giani; Matthias Günther; Kathrin Günther; Klaus-Peter Günther; Johannes Haerting; Ulrike Haug; Iris M Heid; Margit Heier; Diana Heinemeyer; Thomas Hendel; Florian Herbolsheimer; Jochen Hirsch; Wolfgang Hoffmann; Bernd Holleczek; Heike Hölling; Andreas Hörlein; Karl-Heinz Jöckel; Rudolf Kaaks; André Karch; Stefan Karrasch; Nadja Kartschmit; Hans-Ulrich Kauczor; Thomas Keil; Yvonne Kemmling; Bianca Klee; Birgit Klüppelholz; Alexander Kluttig; Lisa Kofink; Anna Köttgen; Daniel Kraft; Gérard Krause; Lisa Kretz; Lilian Krist; Jan Kühnisch; Oliver Kuß; Nicole Legath; Anna-Therese Lehnich; Michael Leitzmann; Wolfgang Lieb; Jakob Linseisen; Markus Loeffler; Anke Macdonald; Klaus H Maier-Hein; Nina Mangold; Claudia Meinke-Franze; Christa Meisinger; Juliane Melzer; Björn Mergarten; Karin B Michels; Rafael Mikolajczyk; Susanne Moebus; Ulrich Mueller; Matthias Nauck; Thoralf Niendorf; Konstantin Nikolaou; Nadia Obi; Stefan Ostrzinski; Leo Panreck; Iris Pigeot; Tobias Pischon; Irene Pschibul-Thamm; Wolfgang Rathmann; Achim Reineke; Stefanie Roloff; Dan Rujescu; Stefan Rupf; Oliver Sander; Tamara Schikowski; Sabine Schipf; Peter Schirmacher; Christopher L Schlett; Börge Schmidt; Georg Schmidt; Martin Schmidt; Gina Schöne; Holger Schulz; Matthias B Schulze; Alexandra Schweig; Anja M Sedlmeier; Sonja Selder; Julia Six-Merker; Ramona Sowade; Andreas Stang; Oliver Stegle; Karen Steindorf; Gunthard Stübs; Enno Swart; Henning Teismann; Inke Thiele; Sigrid Thierry; Marius Ueffing; Henry Völzke; Sabina Waniek; Andrea Weber; Nicole Werner; H-Erich Wichmann; Stefan N Willich; Kerstin Wirkner; Kathrin Wolf; Robert Wolff; Hajo Zeeb; Melanie Zinkhan; Johannes Zschocke
Journal:  Eur J Epidemiol       Date:  2022-10-19       Impact factor: 12.434

Review 5.  Strategic vision for improving human health at The Forefront of Genomics.

Authors:  Eric D Green; Chris Gunter; Leslie G Biesecker; Valentina Di Francesco; Carla L Easter; Elise A Feingold; Adam L Felsenfeld; David J Kaufman; Elaine A Ostrander; William J Pavan; Adam M Phillippy; Anastasia L Wise; Jyoti Gupta Dayal; Britny J Kish; Allison Mandich; Christopher R Wellington; Kris A Wetterstrand; Sarah A Bates; Darryl Leja; Susan Vasquez; William A Gahl; Bettie J Graham; Daniel L Kastner; Paul Liu; Laura Lyman Rodriguez; Benjamin D Solomon; Vence L Bonham; Lawrence C Brody; Carolyn M Hutter; Teri A Manolio
Journal:  Nature       Date:  2020-10-28       Impact factor: 49.962

6.  The Need for Precision Medicine to be Applied to Diabetes.

Authors:  David C Klonoff; Jose C Florez; Michael German; Alexander Fleming
Journal:  J Diabetes Sci Technol       Date:  2020-01-06

7.  Hybrid Graphene-Gold Nanoparticle-based Nucleic Acid Conjugates for Cancer-Specific Multimodal Imaging and Combined Therapeutics.

Authors:  Letao Yang; Tae-Hyung Kim; Hyeon-Yeol Cho; Jeffrey Luo; Jong-Min Lee; Sy-Tsong Dean Chueng; Yannan Hou; Perry To-Tien Yin; Jiyou Han; Jong Hoon Kim; Bong Geun Chung; Jeong-Woo Choi; Ki-Bum Lee
Journal:  Adv Funct Mater       Date:  2020-10-23       Impact factor: 18.808

Review 8.  Precision medicine: Concept and tools.

Authors:  Nardeep Naithani; Sharmila Sinha; Pratibha Misra; Biju Vasudevan; Rajesh Sahu
Journal:  Med J Armed Forces India       Date:  2021-07-03

Review 9.  Translational precision medicine: an industry perspective.

Authors:  Dominik Hartl; Valeria de Luca; Anna Kostikova; Jason Laramie; Scott Kennedy; Enrico Ferrero; Richard Siegel; Martin Fink; Sohail Ahmed; John Millholland; Alexander Schuhmacher; Markus Hinder; Luca Piali; Adrian Roth
Journal:  J Transl Med       Date:  2021-06-05       Impact factor: 5.531

10.  Proportion of Idiopathic Pulmonary Fibrosis Risk Explained by Known Common Genetic Loci in European Populations.

Authors:  Olivia C Leavy; Shwu-Fan Ma; Philip L Molyneaux; Toby M Maher; Justin M Oldham; Carlos Flores; Imre Noth; R Gisli Jenkins; Frank Dudbridge; Louise V Wain; Richard J Allen
Journal:  Am J Respir Crit Care Med       Date:  2021-03-15       Impact factor: 21.405

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