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Keywords

Somatic mutation, Noncoding mutation, CPTAC, Lung cancer, Bioinformatics

Abstract

Background

● Cancer is a disease in which cells grow and divide at an uncontrolled rate and cause damage to surrounding tissue and is caused by mutations in the cells’ DNA.

● Though some cancer-causing mutations are inherited from parents, most cancer-causing mutations emerge over the course of a person’s life and are localized to the tumor. These localized mutations are also known as somatic mutations.

● The human genome is over 6.27 billion base pairs long and cannot be read from end to end; instead it is read in small pieces that are aligned to best-matching sequences in the human reference genome. Many mutation-calling algorithms will use these alignments to find mutations, but this method is less effective for larger insertion/deletion mutations. Because of complications like this, mid-sized insertion/deletion mutations are often ignored in other studies.

● To detect these mutations, I built a pipeline incorporating three tools (Pindel, ABRA, and Platypus) that use methods designed to capture them. Not only is this pipeline useful in analyzing tumor-normal data, it can also provide a more complete

Document Type

Poster

Publication Date

2024-03-21

Language

English

College

Life Sciences

Department

Biology

University Standing at Time of Publication

Junior

Determining the Role of Noncoding Insertion and Deletion Mutations in Lung Cancer

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