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Pregledni rad
https://doi.org/10.13112/Pc.2013.1

Next generation sequencing – towards translation into clinical practice

Aleš Maver ; Clinical Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Center Ljubljana, Šlajmerjeva 3, Ljubljana 1000, Slovenia
Borut Peterlin   ORCID icon orcid.org/0000-0001-7824-4978 ; Clinical Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Center Ljubljana, Šlajmerjeva 3, Ljubljana 1000, Slovenia

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Sažetak
Despite substantial eff orts, the cause of a signifi cant proportion of mendelian disorders is still unknown. Recently, signifi cant advances
in determination of nucleotide sequence present an opportunity to investigate the genetic material down to a single nucleotide
resolution on the whole exome or genome scale. This opens complete possibilities for deciphering genetic etiology of genetic disorders
and, most importantly, expanding the fi eld of genetic studies from limited cases of diseases occurring in large families to smaller
familial confi gurations, making detection of causative genes possible even in trios of parents with a single aff ected proband. Despite
the development in both the technology of next generation sequencing and increases in computational power for complex data
analysis, the interpretation of results, making sense of genome-scale information in medical setting and conveying this information
to the patient, have been lagging behind. In addition, novel ethical questions have opened, especially those related to reporting of
incidental fi ndings. These issues are the key points for discussion prior to setting the protocols and guidelines for implementing the
whole exome and genome sequencing into clinical practice. This overview will initially give a brief introduction to the technical
background behind the next generation sequencing and methodological steps involved. Basic introduction to some of the key steps
in data analysis of the next generation sequencing data and challenges encountered thereby will also be given, based on our experiences
at the Centre for Mendelian Genomics in Slovenia.

Ključne riječi
base sequence; genetic diseases, inborn

Hrčak ID: 119811

URI
https://hrcak.srce.hr/119811

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Posjeta: 322 *