Article
Deletions of chromosomal regulatory boundaries are associated with congenital disease.
Genome biology - 4 Sept 2014
Ibn-Salem Jonas, Köhler Sebastian, Love Michael I, Chung Ho-Ryun, Huang Ni, Hurles Matthew E, Haendel Melissa, Washington Nicole L, Smedley Damian, Mungall Christopher J, Lewis Suzanna E, Ott Claus-Eric, Bauer Sebastian, Schofield Paul N, Mundlos Stefan, Spielmann Malte, Robinson Peter N
Abstract excerpt
BACKGROUND: Recent data from genome-wide chromosome conformation capture analysis indicate that the human genome is divided into conserved megabase-sized self-interacting regions called topological domains. These topological domains form the regulatory backbone of the genome and are separated by regulatory boundary elements or barriers. Copy-number variations can potentially alter the topological domain...
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