SNP and indel frequencies at transcription start sites and at canonical and alternative translation initiation sites in the human genome.

ABSTRACT: Single-nucleotide polymorphisms (SNPs) are the most common form of genetic variation in humans and drive phenotypic variation. Due to evolutionary conservation, SNPs and indels (insertion and deletions) are depleted in functionally important sequence elements. Recently, population-scale sequencing efforts such as the 1000 Genomes Project and the Genome of the Netherlands Project have catalogued large numbers of sequence variants. Here, we present a systematic analysis of the polymorphisms reported by these two projects in different coding and non-coding genomic elements of the human genome (intergenic regions, CpG islands, promoters, 5' UTRs, coding exons, 3' UTRs, introns, and intragenic regions). Furthermore, we were especially interested in the distribution of SNPs and indels in direct

SUBMITTER: Neininger K 

PROVIDER: S-EPMC6461226 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature