Focused Exome Sequencing Gives a High Diagnostic Yield in The Indian Sub-Continent

We reported pathogenic or likely pathogenic variants in 280 out of 833 cases with a diagnostic yield of 33.6%.

Source: Journal of Molecular Diagnostics - April 4, 2024 Category: Pathology Authors: Arul Joseph Duraisamy, Ruby Liu, Shruti Sureshkumar, Rajiv Rose, Lakshmanan Jagannathan, Cristina da Silva, Adam Coovadia, Vinish Ramachander, Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth Muthu Selvaraj, Bhuvandeep Narang, Katayoon Darv Tags: Regular Article Source Type: research