469
joint consensus recommendation of the American College of
Medical Genetics and Genomics and the Association for Molecular
Pathology. Genet Med advance online publication 5 March 2015.
46. Ware J. Roberts AM, Cook SA. Next generation sequencing for clinical
diagnostics and personalised medicine: implications for the next
generation cardiologist. Heart. 2012;98(4):276-81
47. Hong H, Zhang W, Shen J, Su Z, Ning B, et al. Critical role of
bioinformatics in translating huge amounts of next-generation
sequencing data into personalized medicine. Sci China Life Sci.
2013;56(2):110-8.
48. Gullapalli RR, Desai KV, Santana-Santos L, Kant JA, Becich MJ.
Next generation sequencing in clinical medicine: Challenges and
lessons for pathology and biomedical informatics. J Pathol Inform.
2012;3:40
49. Handel AE, Disanto G, Ramagopalan SV. Next-generation
sequencing in understanding complex neurological disease. Expert
Rev Neurother. 2013;13(2):215-27.
50. Rapezzi C, Arbustini E, Caforio AL, Charron P, Gimeno-Blanes J,
Elliott P, et al. Diagnostic work-up in cardiomyopathies: bridging
the gap between clinical phenotypes and final diagnosis. A position
statement from the ESC Working Group on Myocardial and
Pericardial Diseases. Eur Heart J. 2013;34(19):1448-58
51. Sabater-MolinaM, García-Molina E, Tovar I, Ruiz-Espejo F, Gimeno
JR, Valdés M. Cost-effectiveness of genetic studies in inherited
heart diseases. Cardiogenetics [Internet]. 2013 [citado 1 mayo
2015];3:e5:28-30.Disponible en:
http://dx.doi.org/10.4081/cardiogenetics.2013.e5
52. Shashi V, McConkie-Rosell A, Rosell B, et al. The utility of the
traditional medical genetics diagnostic evaluation in the context
of next-generation sequencing for undiagnosed genetic disorders.
Genet Med 2014;16:176–182
53. Xue Y, Ankala A, Wilcox W, Hegde M. Solving the molecular
diagnostic testing conundrumfor Mendelian disorders in the era of
next-generation sequencing: single-gene, gene panel, or exome/
genome sequencing. Genet Med advance online publication 18
September 2014.
54. Strom SP, Lee H, Das K, et al. Assessing the necessity of confirmatory
testing for exome-sequencing results in a clinical molecular
diagnostic laboratory. Genet Med 2014;16:510–515
[EL DIAGNÓSTICO MOLECULAR DE ENFERMEDADES GENÉTICAS - Sonia Santillán MD PhD y cols.]