Literature DB >> 31308101

Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare.

Katherine S Josephs1, Alison Berner2, Angela George3, Richard H Scott4, Helen V Firth5, Katrina Tatton-Brown6.   

Abstract

Powerful new genomic technologies are transforming healthcare. The faster, cheaper generation of genomic data is driving the integration of genomics into all healthcare specialties. Within the next decade, healthcare professionals will be using genomic data to diagnose and manage their patients.However, despite these exciting advances, few clinicians are aware of or prepared for this genomics-based future. Through five patient-focused scenarios with accompanying interviews, this article showcases new genomic technologies while highlighting the inherent challenges associated with complex genomic data. © Royal College of Physicians 2019. All rights reserved.

Entities:  

Keywords:  Genomics; continuing medical education; next generation sequencing; personalised medicine; variant

Year:  2019        PMID： 31308101      PMCID： PMC6752247          DOI： 10.7861/clinmedicine.19-4-269

Source DB:  PubMed          Journal:  Clin Med (Lond)        ISSN： 1470-2118            Impact factor:   2.659


  10 in total

Review 1.  Mechanisms underlying mutational signatures in human cancers.

Authors:  Thomas Helleday; Saeed Eshtad; Serena Nik-Zainal
Journal:  Nat Rev Genet       Date:  2014-07-01       Impact factor: 53.242

Review 2.  Updates on immunotherapy for colorectal cancer.

Authors:  Aparna Kalyan; Sheetal Kircher; Hiral Shah; Mary Mulcahy; Al Benson
Journal:  J Gastrointest Oncol       Date:  2018-02

Review 3.  Tuberous Sclerosis Complex: A Review.

Authors:  Stephanie Carapetian Randle
Journal:  Pediatr Ann       Date:  2017-04-01       Impact factor: 1.132

4.  Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial.

Authors:  John J Bissler; J Christopher Kingswood; Elżbieta Radzikowska; Bernard A Zonnenberg; Michael Frost; Elena Belousova; Matthias Sauter; Norio Nonomura; Susanne Brakemeier; Petrus J de Vries; Vicky H Whittemore; David Chen; Tarek Sahmoud; Gaurav Shah; Jeremie Lincy; David Lebwohl; Klemens Budde
Journal:  Lancet       Date:  2013-03-09       Impact factor: 79.321

5.  High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:  Fadi F Hamdan; Candace T Myers; Patrick Cossette; Philippe Lemay; Dan Spiegelman; Alexandre Dionne Laporte; Christina Nassif; Ousmane Diallo; Jean Monlong; Maxime Cadieux-Dion; Sylvia Dobrzeniecka; Caroline Meloche; Kyle Retterer; Megan T Cho; Jill A Rosenfeld; Weimin Bi; Christine Massicotte; Marguerite Miguet; Ledia Brunga; Brigid M Regan; Kelly Mo; Cory Tam; Amy Schneider; Georgie Hollingsworth; David R FitzPatrick; Alan Donaldson; Natalie Canham; Edward Blair; Bronwyn Kerr; Andrew E Fry; Rhys H Thomas; Joss Shelagh; Jane A Hurst; Helen Brittain; Moira Blyth; Robert Roger Lebel; Erica H Gerkes; Laura Davis-Keppen; Quinn Stein; Wendy K Chung; Sara J Dorison; Paul J Benke; Emily Fassi; Nicole Corsten-Janssen; Erik-Jan Kamsteeg; Frederic T Mau-Them; Ange-Line Bruel; Alain Verloes; Katrin Õunap; Monica H Wojcik; Dara V F Albert; Sunita Venkateswaran; Tyson Ware; Dean Jones; Yu-Chi Liu; Shekeeb S Mohammad; Peyman Bizargity; Carlos A Bacino; Vincenzo Leuzzi; Simone Martinelli; Bruno Dallapiccola; Marco Tartaglia; Lubov Blumkin; Klaas J Wierenga; Gabriela Purcarin; James J O'Byrne; Sylvia Stockler; Anna Lehman; Boris Keren; Marie-Christine Nougues; Cyril Mignot; Stéphane Auvin; Caroline Nava; Susan M Hiatt; Martina Bebin; Yunru Shao; Fernando Scaglia; Seema R Lalani; Richard E Frye; Imad T Jarjour; Stéphanie Jacques; Renee-Myriam Boucher; Emilie Riou; Myriam Srour; Lionel Carmant; Anne Lortie; Philippe Major; Paola Diadori; François Dubeau; Guy D'Anjou; Guillaume Bourque; Samuel F Berkovic; Lynette G Sadleir; Philippe M Campeau; Zoha Kibar; Ronald G Lafrenière; Simon L Girard; Saadet Mercimek-Mahmutoglu; Cyrus Boelman; Guy A Rouleau; Ingrid E Scheffer; Heather C Mefford; Danielle M Andrade; Elsa Rossignol; Berge A Minassian; Jacques L Michaud
Journal:  Am J Hum Genet       Date:  2017-11-02       Impact factor: 11.025

6.  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

7.  Treatment effect of mTOR-inhibition on tissue composition of renal angiomyolipomas in tuberous sclerosis complex (TSC).

Authors:  Susanne Brakemeier; Lars Vogt; Lisa Adams; Bianca Zukunft; Gerd Diederichs; Bernd Hamm; Klemens Budde; Marcus R Makowski
Journal:  PLoS One       Date:  2017-12-12       Impact factor: 3.240

8.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

9.  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Authors:  Gemma L Carvill; Sinéad B Heavin; Simone C Yendle; Jacinta M McMahon; Brian J O'Roak; Joseph Cook; Adiba Khan; Michael O Dorschner; Molly Weaver; Sophie Calvert; Stephen Malone; Geoffrey Wallace; Thorsten Stanley; Ann M E Bye; Andrew Bleasel; Katherine B Howell; Sara Kivity; Mark T Mackay; Victoria Rodriguez-Casero; Richard Webster; Amos Korczyn; Zaid Afawi; Nathanel Zelnick; Tally Lerman-Sagie; Dorit Lev; Rikke S Møller; Deepak Gill; Danielle M Andrade; Jeremy L Freeman; Lynette G Sadleir; Jay Shendure; Samuel F Berkovic; Ingrid E Scheffer; Heather C Mefford
Journal:  Nat Genet       Date:  2013-05-26       Impact factor: 38.330

10.  Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Authors:  Natalie Trump; Amy McTague; Helen Brittain; Apostolos Papandreou; Esther Meyer; Adeline Ngoh; Rodger Palmer; Deborah Morrogh; Christopher Boustred; Jane A Hurst; Lucy Jenkins; Manju A Kurian; Richard H Scott
Journal:  J Med Genet       Date:  2016-03-18       Impact factor: 6.318
  10 in total
  2 in total

1.  EZCancerTarget: an open-access drug repurposing and data-collection tool to enhance target validation and optimize international research efforts against highly progressive cancers.

Authors:  David Dora; Timea Dora; Gabor Szegvari; Csongor Gerdán; Zoltan Lohinai
Journal:  BioData Min       Date:  2022-10-01       Impact factor: 4.079

2.  Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Authors:  Charlotte L Alston; Mike T Veling; Juliana Heidler; Lucie S Taylor; Joseph T Alaimo; Andrew Y Sung; Langping He; Sila Hopton; Alexander Broomfield; Julija Pavaine; Jullianne Diaz; Eyby Leon; Philipp Wolf; Robert McFarland; Holger Prokisch; Saskia B Wortmann; Penelope E Bonnen; Ilka Wittig; David J Pagliarini; Robert W Taylor
Journal:  Am J Hum Genet       Date:  2019-12-19       Impact factor: 11.025
  2 in total

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