Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Allele frequencies of variants in ultra conserved elements identify selective pressure on transcription factor binding.

PloS one - 1 Jan 2014

Silla Toomas, Kepp Katrin, Tai E Shyong, Goh Liang, Davila Sonia, Catela Ivkovic Tina, Calin George A, Voorhoeve P Mathijs

Abstract excerpt

Ultra-conserved genes or elements (UCGs/UCEs) in the human genome are extreme examples of conservation. We characterized natural variations in 2884 UCEs and UCGs in two distinct populations; Singaporean Chinese (n = 280) and Italian (n = 501) by using a pooled sample, targeted capture, sequencing approach. We identify, with high confidence, in these regions the abundance of rare SNVs (MAF<0.5%) of which 75% is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Conserved Sequence
Share to Genome, Human

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Nucleic Acid Conformation

Share to Protein Binding

Share to Sequence Analysis, DNA

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 25369454
DOI: 10.1371/journal.pone.0110692
PMCID: PMC4219694

Genes

MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allele frequencies of variants in ultra conserved elements identify selective pressure on transcription factor binding.PMID 25369454Read ↗

Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.Semantic proximity Read ↗

Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project.Semantic proximity Read ↗

Genetic Variations of Ultraconserved Elements in the Human Genome.Semantic proximity Read ↗

Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo.Semantic proximity Read ↗

Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data.Semantic proximity Read ↗

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.Semantic proximity Read ↗

Survey of variation in human transcription factors reveals prevalent DNA binding changes.Semantic proximity Read ↗

Systematic analysis of binding of transcription factors to noncoding variants.Semantic proximity Read ↗

SNPs in ultraconserved elements and familial breast cancer risk.Semantic proximity Read ↗

Identifying functional single nucleotide polymorphisms in the human CArGome.Semantic proximity Read ↗

Patterns of variation in cis-regulatory regions: examining evidence of purifying selection.Semantic proximity Read ↗

Conserved noncoding sequences are selectively constrained and not mutation cold spots.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.