Authors :
Mehek Isharani
Volume/Issue :
Volume 8 - 2023, Issue 9 - September
Google Scholar :
https://bit.ly/3TmGbDi
Scribd :
https://tinyurl.com/ypfvpep8
DOI :
https://doi.org/10.5281/zenodo.8410090
Abstract :
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.
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.
