INSinPAL : Detecting Large Insertion Events in Whole Genome Sequencing Data at Palindromic Fragile Sites for Diagnostic Purposes

Diplôme Master INSinPAL : Detecting Large Insertion Events in Whole Genome Sequencing Data at Palindromic Fragile Sites for Diagnostic Purposes eng 2024-08-26 author Sehir Mehmet Serif 927584 director Masclaux Frédéric 602759 director Blouin Jean-Louis 513663 Département de médecine génétique et développement (GEDEV) 48 We identified a large insertion within a highly similar inverted repeat (DNA palindrome) linked to a patient's genetic disorder, suggesting these regions as potential hotspots for additional insertions in unresolved cases. To investigate this hypothesis, we developed INSinPAL, a Snakemake-based pipeline for detecting large insertions within a custom palindromic fragile site (PFS) database. The pipeline includes modules for characterizing inserted sequences by source and size. INSinPAL achieved a 60% recall on the HG002 tier 1 large insertion benchmark and accurately characterized 20 simulated insertions. Although the analysis of 95 patient WGS data did not yield any diagnostic findings, the identified PFSs demonstrated instability, confirming their relevance for variant calling, and emphasizing their potential role in genetic disease. Dewey 570 Dewey 576.5 Maîtrise universitaire en Biologie: Bioinformatics and Data Analysis in Biology (BIADB) 30 Section de biologie 16 135 Département de médecine génétique et développement 21D false 1297 Abramowicz Lab 1013 https://github.com/Meetmet21/INSinPAL 5d9a3639-7c19-4e87-bcaf-9432521613f3 Master thesis Restricted INSinPAL.pdf 1691556 application/pdf 553171a4e562e496c1df27dc901ee3f98aab6340aa97198255125007544e91da restrictedAccess Faculté des sciences / Section de biologie Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

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INSinPAL : Detecting Large Insertion Events in Whole Genome Sequencing Data at Palindromic Fragile Sites for Diagnostic Purposes				2024	52	0

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Sehir, Mehmet Serif

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