Article

Distinct sequence features underlie microdeletions and gross deletions in the human genome

2021-09-25

Abstract excerpt

Microdeletions and gross deletions are important causes (~20%) of human inherited disease. Their genomic locations are strongly influenced by the local DNA sequence environment. Yet no systematic study has examined the generative mechanisms. Here, we obtained 42,098 pathogenic microdeletions and gross deletions from the Human Gene Mutation Database (HGMD) that together form a continuum of germline deletions rangin...

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Literature Corpus work: d7bec546-a156-5e6d-ab04-34923792bf20
DOI: 10.22541/au.163254596.64451455/v1

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