Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing

Naresh Tayade; Anjali Krishna A; Gautham Manoj; Akshay Kewat; Rajiv Devulapalli; Somesh Kumar; Sunil K Polipalli; Bipin G Nair; Obul Reddy Bandapalli; Prashanth Suravajhala

doi:10.20944/preprints202312.1095.v1

How to cite: Tayade, N.; A, A.K.; Manoj, G.; Kewat, A.; Devulapalli, R.; Kumar, S.; Polipalli, S.K.; Nair, B.G.; Bandapalli, O.R.; Suravajhala, P. Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing. Preprints 2023, 2023121095. https://doi.org/10.20944/preprints202312.1095.v1 Tayade, N.; A, A.K.; Manoj, G.; Kewat, A.; Devulapalli, R.; Kumar, S.; Polipalli, S.K.; Nair, B.G.; Bandapalli, O.R.; Suravajhala, P. Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing. Preprints 2023, 2023121095. https://doi.org/10.20944/preprints202312.1095.v1

Abstract

We explore three cases of pediatric neurological diseases, viz. Arthrogryposis, congenital bilateral cataract and Autism by analyzing clinical exomes. As genetic variation attributing to pathogenesis is a significant bottleneck, we attempted to understand and validate them using Sanger validation. We further employ our CONVEX pipeline to infer pathogenic variants and discern the candidate genes for phenotype correlation.

Keywords

Subject

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Genomic Exploration of Pediatric Neurological Diversity: Lessons from Clinical Exome Panel Sequencing

Abstract

Keywords

Subject

Comments (0)