Öz
The Next-Generation Sequencing (NGS) method is based on by forming a library with a plurality of DNA fragments by cutting the base DNA with enzymatic reactions and the amplification of DNA fragments constituting the library. According to OMIM statistics, there are now more than 6,000 single gene disorders and molecular basis of nearly two thirds of these disorder is unknown. A great deal of progress has begun to be made in understanding the molecular basis of many diseases depending on the development of NGS platforms. With NGS technology, in addition to whole genomes and whole exome sequencing, a large number of genes can be sequenced for the etiology of diseases with genetic heterogeneity using target-oriented NGS panels at the same time. With the description of genetic etiology that causes diseases, patients can be given more accurate genetic counseling and family members under risk can be quickly screened. It is possible to reveal the genetic basis of phenotypic and genotypic heterogeneous diseases with the development of new generation lineage analyzes. To the best of our knowledge, there are no Turkish review except for a few English review written about NGS so far. For this reason, it is tried to present to readers what is known about NGS in this review.
Anahtar Kelimeler
Öz
Anahtar Kelimeler
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Derleme |
| Yazarlar | |
| Yayımlanma Tarihi | 31 Mart 2018 |
| Gönderilme Tarihi | 5 Ekim 2017 |
| Yayımlandığı Sayı | Yıl 2017 Cilt: 19 Sayı: 1 |
Kaynak Göster
Düzce Tıp Fakültesi Dergisi Creative Commons Atıf-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.