Literature DB >> 29063562

A Review of Recent Advances in Translational Bioinformatics: Bridges from Biology to Medicine.

J Vamathevan, E Birney.   

Abstract

Objectives: To highlight and provide insights into key developments in translational bioinformatics between 2014 and 2016.
Methods: This review describes some of the most influential bioinformatics papers and resources that have been published between 2014 and 2016 as well as the national genome sequencing initiatives that utilize these resources to routinely embed genomic medicine into healthcare. Also discussed are some applications of the secondary use of patient data followed by a comprehensive view of the open challenges and emergent technologies.
Results: Although data generation can be performed routinely, analyses and data integration methods still require active research and standardization to improve streamlining of clinical interpretation. The secondary use of patient data has resulted in the development of novel algorithms and has enabled a refined understanding of cellular and phenotypic mechanisms. New data storage and data sharing approaches are required to enable diverse biomedical communities to contribute to genomic discovery.
Conclusion: The translation of genomics data into actionable knowledge for use in healthcare is transforming the clinical landscape in an unprecedented way. Exciting and innovative models that bridge the gap between clinical and academic research are set to open up the field of translational bioinformatics for rapid growth in a digital era. Georg Thieme Verlag KG Stuttgart.

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Year:  2017        PMID: 29063562      PMCID: PMC6239226          DOI: 10.15265/IY-2017-017

Source DB:  PubMed          Journal:  Yearb Med Inform        ISSN: 0943-4747


  53 in total

Review 1.  What is bioinformatics? A proposed definition and overview of the field.

Authors:  N M Luscombe; D Greenbaum; M Gerstein
Journal:  Methods Inf Med       Date:  2001       Impact factor: 2.176

2.  Using human genetics to make new medicines.

Authors:  Jeffrey C Barrett; Ian Dunham; Ewan Birney
Journal:  Nat Rev Genet       Date:  2015-09-15       Impact factor: 53.242

3.  Disclosing Genetic Risk for Coronary Heart Disease: Attitudes Toward Personal Information in Health Records.

Authors:  Sherry-Ann Brown; Hayan Jouni; Tariq S Marroush; Iftikhar J Kullo
Journal:  Am J Prev Med       Date:  2017-01-03       Impact factor: 5.043

4.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

5.  The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery.

Authors:  Hendrik G Stunnenberg; Martin Hirst
Journal:  Cell       Date:  2016-11-17       Impact factor: 41.582

6.  Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.

Authors:  Claire E Wainwright; J Stuart Elborn; Bonnie W Ramsey; Gautham Marigowda; Xiaohong Huang; Marco Cipolli; Carla Colombo; Jane C Davies; Kris De Boeck; Patrick A Flume; Michael W Konstan; Susanna A McColley; Karen McCoy; Edward F McKone; Anne Munck; Felix Ratjen; Steven M Rowe; David Waltz; Michael P Boyle
Journal:  N Engl J Med       Date:  2015-05-17       Impact factor: 91.245

Review 7.  Recommendations for the integration of genomics into clinical practice.

Authors:  Sarah Bowdin; Adel Gilbert; Emma Bedoukian; Christopher Carew; Margaret P Adam; John Belmont; Barbara Bernhardt; Leslie Biesecker; Hans T Bjornsson; Miriam Blitzer; Lisa C A D'Alessandro; Matthew A Deardorff; Laurie Demmer; Alison Elliott; Gerald L Feldman; Ian A Glass; Gail Herman; Lucia Hindorff; Fuki Hisama; Louanne Hudgins; A Micheil Innes; Laird Jackson; Gail Jarvik; Raymond Kim; Bruce Korf; David H Ledbetter; Mindy Li; Eriskay Liston; Christian Marshall; Livija Medne; M Stephen Meyn; Nasim Monfared; Cynthia Morton; John J Mulvihill; Sharon E Plon; Heidi Rehm; Amy Roberts; Cheryl Shuman; Nancy B Spinner; D James Stavropoulos; Kathleen Valverde; Darrel J Waggoner; Alisha Wilkens; Ronald D Cohn; Ian D Krantz
Journal:  Genet Med       Date:  2016-05-12       Impact factor: 8.822

8.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

9.  Rapid metagenomic identification of viral pathogens in clinical samples by real-time nanopore sequencing analysis.

Authors:  Alexander L Greninger; Samia N Naccache; Scot Federman; Guixia Yu; Placide Mbala; Vanessa Bres; Doug Stryke; Jerome Bouquet; Sneha Somasekar; Jeffrey M Linnen; Roger Dodd; Prime Mulembakani; Bradley S Schneider; Jean-Jacques Muyembe-Tamfum; Susan L Stramer; Charles Y Chiu
Journal:  Genome Med       Date:  2015-09-29       Impact factor: 11.117

10.  The real cost of sequencing: scaling computation to keep pace with data generation.

Authors:  Paul Muir; Shantao Li; Shaoke Lou; Daifeng Wang; Daniel J Spakowicz; Leonidas Salichos; Jing Zhang; George M Weinstock; Farren Isaacs; Joel Rozowsky; Mark Gerstein
Journal:  Genome Biol       Date:  2016-03-23       Impact factor: 13.583

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  5 in total

1.  GM604 regulates developmental neurogenesis pathways and the expression of genes associated with amyotrophic lateral sclerosis.

Authors:  William R Swindell; Krzysztof Bojanowski; Mark S Kindy; Raymond M W Chau; Dorothy Ko
Journal:  Transl Neurodegener       Date:  2018-12-03       Impact factor: 8.014

2.  Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A.

Authors:  Mujahed I Mustafa; Naseem S Murshed; Abdelrahman H Abdelmoneim; Miyssa I Abdelmageed; Nafisa M Elfadol; Abdelrafie M Makhawi
Journal:  Scientifica (Cairo)       Date:  2020-04-19

3.  Identification of a prognostic gene signature of colon cancer using integrated bioinformatics analysis.

Authors:  Zhengyu Fang; Sumei Xu; Yiwen Xie; Wenxi Yan
Journal:  World J Surg Oncol       Date:  2021-01-13       Impact factor: 2.754

4.  Identification of Five N6-Methylandenosine-Related ncRNA Signatures to Predict the Overall Survival of Patients with Gastric Cancer.

Authors:  Qingfang Yue; Yuan Zhang; Jun Bai; Xianglong Duan; Haipeng Wang
Journal:  Dis Markers       Date:  2022-04-08       Impact factor: 3.464

5.  In Silico Genetics Revealing 5 Mutations in CEBPA Gene Associated With Acute Myeloid Leukemia.

Authors:  Mujahed I Mustafa; Zainab O Mohammed; Naseem S Murshed; Nafisa M Elfadol; Abdelrahman H Abdelmoneim; Mohamed A Hassan
Journal:  Cancer Inform       Date:  2019-08-19
  5 in total

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