بخش نسل جدید توالی یابی (NGS)

بخش نسل جدید توالی یابی در مرکز تحقیقات کاردیوژنتیک واقع شده و از بهمن ماه سال 1398 فعالیت خود را در زمینه آنالیز دیتای خام  Next-generation sequencing (NGS)آغاز کرده است. این بخش مجهز به سرور حاوی تمام نرم افزارهای آنالیز NGS و بانک های اطلاعاتی می باشد. تاکنون بیش از 400 نمونه بیمار اعم از بیماران قلبی و غیر قلبی (درمان و تحقیقات) در این بخش آنالیز شده است.

 

 

مقالات چاپ شده از بیماران آنالیز شده در این بخش به شرح ذیل می باشد:

 

1. Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene

2. Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death

3. A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy

4. Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy

5. Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing

6. A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1

7. A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects

8. A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing

9. Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing

10. Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

11. Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia

12. Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

13. Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

14. An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

15. Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family