Abstract: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 ranging in size from 1 bp to 28,394,429 bp. We
analyzed the sequence within 1-kb of the breakpoint junct… Show more
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