ArticleNature communications2014
Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes.
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Haplotype-resolved assembly of a pig genome using single-sperm sequencing.Communications biology · 2024Article
- Interrogating the Human Diplome: Computational Methods, Emerging Applications, and Challenges.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Analysis of 1276 Haplotype-Resolved Genomes Allows Characterization of Cis- and Trans-Abundant Genes.Methods in molecular biology (Clifton, N.J.) · 2023Article
- HaplotypeTools: a toolkit for accurately identifying recombination and recombinant genotypes.BMC bioinformatics · 2021Article
- Computational methods for chromosome-scale haplotype reconstruction.Genome biology · 2021Review
- Oligonucleotide hybridization with magnetic separation assay for multiple SNP phasing.Analytica chimica acta: X · 2020Article
- FKBP5 haplotypes and PTSD modulate the resting-state brain activity in Han Chinese adults who lost their only child.Translational psychiatry · 2020Article
- Single-pollen-cell sequencing for gamete-based phased diploid genome assembly in plants.Genome research · 2019Article
- Significant abundance of cis configurations of coding variants in diploid human genomes.Nucleic acids research · 2019Article
- Receptor variants and the development of centrally acting medications .Dialogues in clinical neuroscience · 2019Article
- Understanding Neurobehavioural Dynamics: A Close-Up View on Psychiatry and Quantum Mechanics.The Malaysian journal of medical sciences : MJMS · 2019Article
- Haplosaurus computes protein haplotypes for use in precision drug design.Nature communications · 2018Article
- Comparison of phasing strategies for whole human genomes.PLoS genetics · 2018Article
- Article
- Use of haplotypes to identify regions harbouring lethal recessive variants in pigs.Genetics, selection, evolution : GSE · 2017Article
- Analyzing and interpreting genome data at the network level with ConsensusPathDB.Nature protocols · 2016Article
- Omics approaches to individual variation: modeling networks and the virtual patient.Dialogues in clinical neuroscience · 2016Article
- Genes with monoallelic expression contribute disproportionately to genetic diversity in humans.Nature genetics · 2016Article
- Haplotype-resolved genome sequencing: experimental methods and applications.Nature reviews. Genetics · 2015Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To fully understand human biology and link genotype to phenotype, the phase of DNA variants must be known. Here we present a comprehensive analysis of haplotype-resolved genomes to assess the nature and variation of haplotypes and their pairs, diplotypes, in European population samples. We use a set of 14 haplotype-resolved genomes generated by fosmid clone-based sequencing, complemented and expanded by up to 372 statistically resolved genomes from the 1000 Genomes Project. We find immense diversity of both haploid and diploid gene forms, up to 4.1 and 3.9 million corresponding to 249 and 235 per gene on average. Less than 15% of autosomal genes have a predominant form. We describe a 'common diplotypic proteome', a set of 4,269 genes encoding two different proteins in over 30% of genomes. We show moreover an abundance of cis configurations of mutations in the 386 genomes with an average cis/trans ratio of 60:40, and distinguishable classes of cis- versus trans-abundant genes. This work identifies key features characterizing the diplotypic nature of human genomes and provides a conceptual and analytical framework, rich resources and novel hypotheses on the functional importance of diploidy.
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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.