Biomedical Engineering Reference
In-Depth Information
Medical Association, for NGS tests. Therefore, it is valuable to have a pre-
certifi cation process in place to work with physician on this issue and to engage the
private payer and government agencies to understand the NGS role in improving
patient care.
9.10
Summary
NGS makes it possible to identify disease etiologies for genetic conditions with
substantial genetic heterogeneity and to identify novel disease-causing mutations
and novel disease associate genes. However, clinical laboratories need to overcome
many technical, economical, and ethical obstacles to make it a viable tool for clini-
cal diagnosis.
References
Bell CJ, Dinwiddie DL, Miller NA et al (2011) Carrier testing for severe childhood recessive
diseases by next-generation sequencing. Sci Transl Med 3:65ra4. doi : 10.1126/scitranslmed.3001756
Cirulli ET, Singh A, Shianna KV et al (2010) Screening the human exome: a comparison of
whole genome and whole transcriptome sequencing. Genome Biol 11:R57. doi: 10.1186/
gb-2010-11-5-r57
Gahl WA, Markello TC, Toro C et al (2012) The National Institutes of Health Undiagnosed Diseases
Program: insights into rare diseases. Genet Med 14:51-59. doi: 10.1038/gim.0b013e318232a005
Glenn TC (2011) Field guide to next-generation DNA sequencers. Mol Ecol Resour 11:759-769.
doi: 10.1111/j.1755-0998.2011.03024.x
Ledergerber C, Dessimoz C (2011) Base-calling for next-generation sequencing platforms. Brief
Bioinform 12:489-497. doi : 10.1093/bib/bbq077
Li H, Homer N (2010) A survey of sequence alignment algorithms for next-generation sequencing.
Brief Bioinform 11:473-483. doi: 10.1093/bib/bbq015
Majewski J, Schwartzentruber J, Lalonde E et al (2011) What can exome sequencing do for you?
J Med Genet 48:580-589. doi: 10.1136/jmedgenet-2011-100223
Mamanova L, Coffey AJ, Scott CE et al (2010) Target-enrichment strategies for next-generation
sequencing. Nat Methods 7:111-118. doi : 10.1038/nmeth.1419
Mattocks CJ, Morris MA, Matthijs G et al (2010) A standardized framework for the validation and
verifi cation of clinical molecular genetic tests. Eur J Hum Genet 18:1276-1288. doi:10.1038/
ejhg.2010.101
 
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