Analyzing Patterns of De Novo Mutations in Genetic Disorders: Insights of a Comprehensive Database

Authors : Mehek Isharani

Volume/Issue : Volume 8 - 2023, Issue 9 - September

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De novo Mutations (DNMs) are genetic alterations that occur in a family member for the first time either due to a mutation in the parent’s germ cells or a mutation that arises in the embryo during its division. Unlike somatic mutations, de novo mutations can be passed down from one generation to another. De novo mutations have been shown to be an essential cause of several neurodevelopmental disorders, early-onset genetic disorders, and late-onset psychiatric disorders: autism, spectrum disorders, schizophrenia, intellectual disabilities, and coffin-siris syndrome. To analyze such mutations and their association with genetic diseases, researchers often look for patterns. These patterns pinpoint the exact base that may have been replaced and make the task of studying the disease easier . Unlike somatic mutation patterns that have been widely studied in oncology and various other fields since the early 2000s, de novo mutation patterns on the other hand have only been a more recent form of study. Our study aims to explore and analyze patterns associated with DNMs in causing various genetic conditions using the de novo mutation database published by the University of Washington in 2018.


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31 - December - 2023

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