Literature DB >> 23863829

Genomics in clinical practice: lessons from the front lines.

Howard J Jacob1, Kelly Abrams, David P Bick, Kent Brodie, David P Dimmock, Michael Farrell, Jennifer Geurts, Jeremy Harris, Daniel Helbling, Barbara J Joers, Robert Kliegman, George Kowalski, Jozef Lazar, David A Margolis, Paula North, Jill Northup, Altheia Roquemore-Goins, Gunter Scharer, Mary Shimoyama, Kimberly Strong, Bradley Taylor, Shirng-Wern Tsaih, Michael R Tschannen, Regan L Veith, Jaime Wendt-Andrae, Brandon Wilk, Elizabeth A Worthey.   

Abstract

The price of whole-genome and -exome sequencing has fallen to the point where these methods can be applied to clinical medicine. Here, we outline the lessons we have learned in converting a sequencing laboratory designed for research into a fully functional clinical program.

Mesh：

Year:  2013        PMID： 23863829     DOI： 10.1126/scitranslmed.3006468

Source DB:  PubMed          Journal:  Sci Transl Med        ISSN： 1946-6234            Impact factor:   17.956


  42 in total

Review 1.  Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes.

Authors:  Rodrigo A Toledo; Patricia L M Dahia
Journal:  Curr Opin Endocrinol Diabetes Obes       Date:  2015-06       Impact factor: 3.243

Review 2.  Applications of high-throughput DNA sequencing to benign hematology.

Authors:  Vijay G Sankaran; Patrick G Gallagher
Journal:  Blood       Date:  2013-09-10       Impact factor: 22.113

3.  Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Authors:  Neeraj Sharma; Patrick R Sosnay; Anabela S Ramalho; Christopher Douville; Arianna Franca; Laura B Gottschalk; Jeenah Park; Melissa Lee; Briana Vecchio-Pagan; Karen S Raraigh; Margarida D Amaral; Rachel Karchin; Garry R Cutting
Journal:  Hum Mutat       Date:  2014-09-10       Impact factor: 4.878

4.  Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.

Authors:  Patrícia Ashton-Prolla; José Roberto Goldim; Filippo Pinto E Vairo; Ursula da Silveira Matte; Jorge Sequeiros
Journal:  J Community Genet       Date:  2015-06-04

5.  Personal genomes, participatory genomics and the anonymity-privacy conundrum.

Authors:  Vinod Scaria
Journal:  J Genet       Date:  2014-12       Impact factor: 1.166

Review 6.  Individualized medicine from prewomb to tomb.

Authors:  Eric J Topol
Journal:  Cell       Date:  2014-03-27       Impact factor: 41.582

7.  New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.

Authors:  Nara Sobreira; François Schiettecatte; Corinne Boehm; David Valle; Ada Hamosh
Journal:  Hum Mutat       Date:  2015-04       Impact factor: 4.878

Review 8.  Genome sequencing in the clinic: the past, present, and future of genomic medicine.

Authors:  Jeremy W Prokop; Thomas May; Kim Strong; Stephanie M Bilinovich; Caleb Bupp; Surender Rajasekaran; Elizabeth A Worthey; Jozef Lazar
Journal:  Physiol Genomics       Date:  2018-05-04       Impact factor: 3.107

9.  Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.

Authors:  Shubhangi Arora; Eden Haverfield; Gabriele Richard; Susanne B Haga; Rachel Mills
Journal:  J Genet Couns       Date:  2015-08-19       Impact factor: 2.537

10.  Personalized medicine: from genotypes and molecular phenotypes towards therapy- session introduction.

Authors:  Jennifer Listgarten; Oliver Stegle; Quaid Morris; Steven E Brenner; Leopold Parts
Journal:  Pac Symp Biocomput       Date:  2014
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