ArticleNature biotechnology2011
Whole-genome molecular haplotyping of single cells.
Article in Nature biotechnology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 178 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
178 citing papers in PubMed, 370 citations in OpenAlex.
- Advances in Microfluidic Single-Cell RNA Sequencing and Spatial Transcriptomics.Micromachines · 2025Review
- Current Progress in Phased Genome Assembly from Long-Read DNA Sequencing Data.Methods in molecular biology (Clifton, N.J.) · 2025Review
- On-chip dielectrophoretic single-cell manipulation.Microsystems & nanoengineering · 2024Review
- Single-Cell Sequencing Technology and Its Application in the Study of Central Nervous System Diseases.Cell biochemistry and biophysics · 2024Review
- Beyond single cells: microfluidics empowering multiomics analysis.Analytical and bioanalytical chemistry · 2024Review
- Mapping crossover events of mouse meiotic recombination by restriction fragment ligation-based Refresh-seq.Cell discovery · 2024Article
- Digital PCR for Single-Cell Analysis.Biosensors · 2024Review
- Review
- A High-Throughput Single-Cell Assay on a Valve-Based Microfluidic Platform Applied to Protein Quantification, Immune Response Monitoring, and Drug Discovery.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
- Interrogating the Human Diplome: Computational Methods, Emerging Applications, and Challenges.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.Scientific reports · 2022Article
- Isolation and sequencing of a single copy of an introgressed chromosome from a complex genome for gene and SNP identification.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2022Article
- Single-Cell Sequencing and Its Applications in Liver Cancer.Frontiers in oncology · 2022Review
- Article
- Microfluidics applications for high-throughput single cell sequencing.Journal of nanobiotechnology · 2021Review
- Upscaling of pneumatic membrane valves for the integration of 3D cell cultures on chip.Lab on a chip · 2021Article
- Deterministic assembly of chromosome ensembles in a programmable membrane trap array.Biofabrication · 2021Article
- Determination of complete chromosomal haplotypes by bulk DNA sequencing.Genome biology · 2021Article
- Computational methods for chromosome-scale haplotype reconstruction.Genome biology · 2021Review
118 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Conventional experimental methods of studying the human genome are limited by the inability to independently study the combination of alleles, or haplotype, on each of the homologous copies of the chromosomes. We developed a microfluidic device capable of separating and amplifying homologous copies of each chromosome from a single human metaphase cell. Single-nucleotide polymorphism (SNP) array analysis of amplified DNA enabled us to achieve completely deterministic, whole-genome, personal haplotypes of four individuals, including a HapMap trio with European ancestry (CEU) and an unrelated European individual. The phases of alleles were determined at ∼99.8% accuracy for up to ∼96% of all assayed SNPs. We demonstrate several practical applications, including direct observation of recombination events in a family trio, deterministic phasing of deletions in individuals and direct measurement of the human leukocyte antigen haplotypes of an individual. Our approach has potential applications in personal genomics, single-cell genomics and statistical genetics.
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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.