Publications by authors named "Akash Navilebasappa"
Article Synopsis
- Newborn screening (NBS) is a vital public health measure that identifies treatable genetic diseases, but many conditions remain untested due to a lack of suitable methods; targeted gene sequencing (TGS) offers a potential solution.
- A TGS panel was created to screen 164 genes associated with various inherited conditions, and a streamlined laboratory process was established to manage the samples efficiently and address challenges seen with broader genome sequencing.
- Results showed high accuracy in the assay with over 99% sensitivity and 100% specificity, demonstrating that TGS can effectively expand NBS programs and may prove cost-effective for screening more conditions.
Background: Cystic Fibrosis (CF) is one of the most prevalent autosomal recessive inherited disease in Caucasians. Rates of CF were thought to be negligible in non-Caucasians but growing epidemiological evidence shows CF is more common in Indian, African, Hispanic, Asian, and other ethnic groups than previously thought. Almost all second-tier molecular diagnostic tools currently used to confirm the diagnosis of CF consist of panels of the most common CF-causing DNA variants in Caucasians.
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