A5079467321- Renal cell carcinoma treatment
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Bladder and Urothelial Cancer Treatments
- Cancer Genomics and Diagnostics
- CRISPR and Genetic Engineering
SciGenom Labs (India)
2019-2022
Abstract Parkinson's disease (PD) is a genetically heterogeneous neurodegenerative with poorly defined environmental influences. Genomic studies of PD patients have identified disease‐relevant monogenic genes, rare variants significance, and polygenic risk‐associated variants. In this study, whole genome sequencing data from 90 young onset (YOPD) individuals are analyzed for both risk. The genetic variant analysis identifies pathogenic/likely pathogenic in eight the (8.8%). It includes large...
Background: Urothelial carcinoma is the most common malignancy of bladder and primarily considered as a disease elderly. Studies that address tumor occurrence in young age groups are rare. Case Presentation: A 19-year-old male presented with gross total painless hematuria. histology after biopsy revealed high-grade transitional cell lymph node metastasis. The patient succumbed to on day 72 treatment. Here, we used whole-exome sequencing paired tumor-normal sample identify somatic mutations...