Tüm Genom Dizileme (WGS) DNA’daki tüm SNP, CNV, Indel gibi varyantların tespininde kullanılır. WES ve CES ten farklı olarak tüm genom analiz edilir. De novo varyantların tespiti sağlanır. Diğer genetik testler ile herhangi bir patojenite tespit edilememiş hastalarda uygulanır.
Nucleus Genetics olarak Tüm Genom kütüphane hazırlığında Roche ve Twist markaları ile çalışıyor, Dizilemelerimizi MGI ve Illumina cihazları ile yapıyoruz.
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