Advanced Biomedical Research and Innovation

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Siddharth KrishnakumarS Author

Subjects of specialization
Adolescent and Pediatric Gynecology, Anorexia Nervosa, Biochemistry of Reproductive Science, Biodiversity Management, Biodiversity and Conservation

Affiliation
Thomas Jefferson High School for Science and Technology, Virginia

Biography

Siddharth Krishnakumar is a high school Junior in Thomas Jefferson High School for Science and Technology. Siddharth is very interested in bioinformatics research and has presented his research in many conferences as both oral presentation and poster presentation.


Publications

Short Communication Open Access

A genetic tool to analyze de novo mutations in autism spectrum disorder using genetic data in vcf format

Author(s): Siddharth KrishnakumarS

Autism Spectrum disorder affects nearly 1-2% of the worldwide population. It is a Neurological Disorder characterized by impaired social communication and interaction, showing signs of repetitive behavior and restricted interests. Even though GWAS studies have identified a large number of genetic markers that could cause Autism, DeNovo mutations also significantly contribute to the cause of Autism Spectrum disorder. Tools for identifying DeNovo mutations such as SNPs, insertions and deletions using analysis such as Identity By State, Inheritance patterns in trios, Copy Number Variation, Parent of Origin duplication all work on SNP Array file format genome data. New generation sequencing file format such as Variant Call Format (VCF) lack tools that performs such analysis. The VCF is a popul... view more»

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