Article
Distinct sequence features underlie microdeletions and gross deletions in the human genome.
Human mutation - 1 Mar 2022
Qi Mengling, Stenson Peter D, Ball Edward V, Tainer John A, Bacolla Albino, Kehrer-Sawatzki Hildegard, Cooper David N, Zhao Huiying
Abstract excerpt
Microdeletions and gross deletions are important causes (~20%) of human inherited disease and their genomic locations are strongly influenced by the local DNA sequence environment. This notwithstanding, no study has systematically examined their underlying generative mechanisms. Here, we obtained 42,098 pathogenic microdeletions and gross deletions from the Human Gene Mutation Database (HGMD) that together form a...
Topics
- Base Composition
- Base Sequence
- DNA
- Genome, Human
- Humans
- Mutation
- Sequence Deletion