ArticleNucleic acids research2010
Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing.
Article in Nucleic acids research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01844700 (1/2-MC4R Genotype and Pediatric Antipsychotic Drug- Induced Weight Gain), which is not on this map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
1/2-MC4R Genotype and Pediatric Antipsychotic Drug- Induced Weight Gain
Who cites it
21 citing papers in PubMed, 53 citations in OpenAlex.
- Genome-wide annotation of human multi-nucleotide variants reveals widespread functional differences from single nucleotide variants.Nature communications · 2026Article
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- DNPcall: a new pipeline for accurate double nucleotide polymorphism calling.Bioinformatics advances · 2025Article
- Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.American journal of human genetics · 2023Article
- Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.medRxiv : the preprint server for health sciences · 2023Article
- Sequence Variation in CaprineAnimals : an open access journal from MDPI · 2022Article
- Accurate Prediction of Protein Sequences for Proteogenomics Data Integration.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.Nature communications · 2020Article
- Quantification of somatic mutation flow across individual cell division events by lineage sequencing.Genome research · 2018Article
- Article
- Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts.Journal of visualized experiments : JoVE · 2016Article
- The Visual Colorimetric Detection of Multi-nucleotide Polymorphisms on a Pneumatic Droplet Manipulation Platform.Journal of visualized experiments : JoVE · 2016Article
- Towards precision medicine.Nature reviews. Genetics · 2016Review
- Article
- MAC: identifying and correcting annotation for multi-nucleotide variations.BMC genomics · 2015Article
- Chapter 15: disease gene prioritization.PLoS computational biology · 2013Article
- Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.PloS one · 2013Article
- Searching for new genetic variations in expression databases for the GABAergic and glutamatergic systems.Journal of molecular neuroscience : MN · 2012Article
- Revising the M235T polymorphism position for the AGT gene and reporting a modifying variant in the Brazilian population with potential cardiac and neural impact.Journal of molecular neuroscience : MN · 2012Article
- Catalog of microRNA seed polymorphisms in vertebrates.PloS one · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Genomic sequence comparisons between individuals are usually restricted to the analysis of single nucleotide polymorphisms (SNPs). While the interrogation of SNPs is efficient, they are not the only form of divergence between genomes. In this report, we expand the scope of polymorphism detection by investigating the occurrence of double nucleotide polymorphisms (DNPs) and triple nucleotide polymorphisms (TNPs), in which two or three consecutive nucleotides are altered compared to the reference sequence. We have found such DNPs and TNPs throughout two complete genomes and eight exomes. Within exons, these novel polymorphisms are over-represented amongst protein-altering variants; nearly all DNPs and TNPs result in a change in amino acid sequence and, in some cases, two adjacent amino acids are changed. DNPs and TNPs represent a potentially important new source of genetic variation which may underlie human disease and they should be included in future medical genetics studies. As a confirmation of the damaging nature of xNPs, we have identified changes in the exome of a glioblastoma cell line that are important in glioblastoma pathogenesis. We have found a TNP causing a single amino acid change in LAMC2 and a TNP causing a truncation of HUWE1.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.