Year: 2017
Type: conference-abstract
Abstract: Effective identification of genomic variations is a crucial step to understand the relationship between genotype and phenotype and it can yield important insights into rare diseases and cancer biology. Exome and whole-genome sequencing are now routinely used in clinics for detection of disease causing variants in Mendelian disorders. Despite great success achieved using these methods, the diagnostic rate for identifying the right variant is ~25-50%. Recent studies have shown that using RNA sequencing (RNA-seq) the diagnostic rate can be improved and can be used as a complementary method for clinical diagnostic.
Authors: Nitin Mandloi, Rohit Gupta, Ravi Gupta*
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $250
OpenAlex ID: W2771784697