ArticleHuman mutation2016
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed.
- Beyond two alleles: multiallelic genotypic selection and its estimation from time-series data.BMC genomics · 2026Article
- Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa.Translational vision science & technology · 2026Article
- An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.Genome medicine · 2025Article
- Exact path-integral representation of the Wright-Fisher model with mutation and selection.BMC genomics · 2025Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.bioRxiv : the preprint server for biology · 2024Article
- Variant graph craft (VGC): a comprehensive tool for analyzing genetic variation and identifying disease-causing variants.BMC bioinformatics · 2024Article
- Polygenic Indices (a.k.a. Polygenic Scores) in Social Science: A Guide for Interpretation and Evaluation.Sociological methodology · 2024Article
- CRISPR/Cas9-induced gene conversion betweenHGG advances · 2022Article
- Genetic effect of an InDel in the promoter region of the NUDT15 and its effect on myoblast proliferation in chickens.BMC genomics · 2022Article
- Genome diversity in Ukraine.GigaScience · 2021Article
- re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files.PeerJ · 2021Article
- Genome-Wide Noninvasive Prenatal Diagnosis of SNPs and Indels.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Article
- prewas: data pre-processing for more informative bacterial GWAS.Microbial genomics · 2020Article
- Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance.Scientific reports · 2019Article
- Multi-allelic positional Burrows-Wheeler transform.BMC bioinformatics · 2019Article
- Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
As the amount of human genomic sequence available from personal genomes and exomes has increased, so too has the observation of genomic positions having two or more alternative alleles, so-called multiallelic sites. For portions of the haploid genome that are present in more than one copy, including segmental duplications, variation at such multisite variant positions becomes even more complex. Despite the frequency of multiallelic variants, a number of commonly used resources and tools in genomic research and diagnostics do not support these multiallelic variants all together or require special modifications. Here, we explore the frequency of multiallelic sites in large samples with whole exome sequencing and discuss potential outcomes of failing to account for multiple variant alleles. We also briefly discuss some commonly utilized resources that fully support multiallelic sites.
Indexed as
Identifiers
What OpenQuestion holds
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.