The topography of nullomer-emerging mutations and their relevance to human disease

Nullomers are short DNA sequences (11–18 base pairs) that are absent from a genome; however, they can emerge due to mutations. Here, we characterize all possible putative human nullomer-emerging single base pair mutations, population variants and disease-causing mutations. We find that the primary d...

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Bibliographic Details

Published in:	Computational and Structural Biotechnology Journal
Main Authors:	Candace S.Y. Chan, Ioannis Mouratidis, Austin Montgomery, Georgios Christos Tsiatsianis, Nikol Chantzi, Martin Hemberg, Nadav Ahituv, Ilias Georgakopoulos-Soares
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Subjects:	Nullomers CpG Islands Pathogenicity
Online Access:	http://www.sciencedirect.com/science/article/pii/S2001037024004471