Exome Sequencing for The Identification of Mendelian Disease Genes

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KAYMAN KÜREKÇİ G., Dincer P.

ERCIYES MEDICAL JOURNAL, vol.36, no.4, pp.139-143, 2014 (ESCI) identifier identifier

  • Publication Type: Article / Review
  • Volume: 36 Issue: 4
  • Publication Date: 2014
  • Doi Number: 10.5152/etd.2014.7804
  • Journal Name: ERCIYES MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.139-143
  • Hacettepe University Affiliated: Yes

Abstract

Over the past several years, next-generation DNA sequencing technologies are used for the identification of genes responsible for Mendelian disorders and genetic variants related to common disorders. The development of exome sequencing and analysis approaches according to inheritance and pedigree information helps to overcome the majority of limitations encountered by traditional genetic mapping approaches. Different strategies used in previous studies constitute an important source for future studies on genetic disorders. In this review, exome sequencing approaches that are used to identify genetic causes of monogenic disorders and the pros and cons of conventional methods are presented.