Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India

CONCLUSION: CES has a definite role in evaluation of suspected genetic conditions for diagnosis and prognostication . It also helps scientific society to build in additional evidence so that the "VUS" could be asserted as "likely pathogenic" . Our experience reiterates the importance of storing and archiving DNA of the affected child.PMID:34000440 | DOI:10.1016/j.ejmg.2021.104247

Source: European Journal of Medical Genetics - May 17, 2021 Category: Genetics & Stem Cells Authors: Dr R UshaDevi Dr Thinesh Kumar Dr Shaik Mohammad Shafi Jan Dr Ashok Chandrasekaran Dr Prakash Amboiram Dr Teena Koshy Dr Uma Maheswari B Source Type: research