![]() 1, the sequence on the positive strand 5′-GACA|TGTC-3′ is a palindrome since GACA is followed by its complement CTGT, but appearing in reverse order as TGTC 2. ![]() In DNA, palindromes are defined as a sequence of nucleotides that are followed by its complement sequence appearing in reverse order 1. The catalog of palindromes in the reference genome and 1000 Genomes is being made available here with details on their variations in each individual genome to serve as a resource for future and retrospective whole-genome studies identifying statistically significant palindrome variations associated with diseases or traits and their roles in disease mechanisms. The analysis of disease/trait-associated single-nucleotide polymorphisms in palindromic regions showed that disease-associated risk variants are 14 times more likely to be present in palindromic regions than in other regions. We found that ~30% of the palindromes exhibit variation, some of which are caused by rare variants. ![]() In this work, we computed and analyzed the palindromic sequences in the human genome and studied their conservation in personal genomes using 1000 Genomes data. Palindromic mutations are linked to many human diseases, such as neuronal disorders, mental retardation, and various cancers. Palindromes are distributed throughout the human genome and play significant roles in gene expression and regulation. ![]() A palindrome in DNA is like a palindrome in language, but when read backwards, it is a complement of the forward sequence effectively, the two halves of a sequence complement each other from its midpoint like in a double strand of DNA. ![]()
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