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High‐Resolution Breakpoint Analysis Provides Evidence for the Sequence‐Directed Nature of Genome Rearrangements in Hereditary Disorders
Author(s) -
Kovac Michal B.,
Kovacova Monika,
Bachraty Hynek,
Bachrata Katarina,
Piscuoglio Salvatore,
Hutter Pierre,
Ilencikova Denisa,
Bartosova Zdena,
Tomlinson Ian,
Roethlisberger Benno,
Heinimann Karl
Publication year - 2015
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22734
Subject(s) - biology , breakpoint , genetics , genome , germline , homologous recombination , computational biology , sequence (biology) , non homologous end joining , recombination , somatic cell , dna , gene , chromosome
Although most of the pertinent data on the sequence‐directed processes leading to genome rearrangements ( GR s) have come from studies on somatic tissues, little is known about GR s in the germ line of patients with hereditary disorders. This study aims at identifying DNA motifs and higher order structures of genome architecture, which can result in losses and gains of genetic material in the germ line. We first identified candidate motifs by studying 112 pathogenic germ‐line GR s in hereditary colorectal cancer patients, and subsequently created an algorithm, termed recombination type ratio, which correctly predicts the propensity of rearrangements with respect to homologous versus nonhomologous recombination events.