ArticlePloS one2015
A rapid molecular approach for chromosomal phasing.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 75 citations in OpenAlex.
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- Innovative rapid screening for complex BCR-ABL1 kinase domain mutations in TKI-treated leukaemia patients.British journal of cancer · 2025Article
- Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis.BMC genomics · 2025Article
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- Three-dimensional linkage analysis with digital PCR for genome integrity and identity of recombinant adeno-associated virus.Scientific reports · 2025Article
- Efficient variant phasing utilizing a replication cycle reaction system.Genetics in medicine open · 2025Article
- In-Depth Comparison of Adeno-Associated Virus Containing Fractions after CsCl Ultracentrifugation Gradient Separation.Viruses · 2024Article
- Heteromultivalency enables enhanced detection of nucleic acid mutations.Nature chemistry · 2024Article
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- A duplex droplet digital PCR assay for absolute quantification and characterization of long self-amplifying RNA.Scientific reports · 2023Article
- Functional analysis of a common BAG3 allele associated with protection from heart failure.Nature cardiovascular research · 2023Article
- Quantification of the mobility potential of antibiotic resistance genes through multiplexed ddPCR linkage analysis.FEMS microbiology ecology · 2023Article
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- Genome concentration, characterization, and integrity analysis of recombinant adeno-associated viral vectors using droplet digital PCR.PloS one · 2023Article
- Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique.Journal of human genetics · 2022Article
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- High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.American journal of human genetics · 2021Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Determining the chromosomal phase of pairs of sequence variants - the arrangement of specific alleles as haplotypes - is a routine challenge in molecular genetics. Here we describe Drop-Phase, a molecular method for quickly ascertaining the phase of pairs of DNA sequence variants (separated by 1-200 kb) without cloning or manual single-molecule dilution. In each Drop-Phase reaction, genomic DNA segments are isolated in tens of thousands of nanoliter-sized droplets together with allele-specific fluorescence probes, in a single reaction well. Physically linked alleles partition into the same droplets, revealing their chromosomal phase in the co-distribution of fluorophores across droplets. We demonstrated the accuracy of this method by phasing members of trios (revealing 100% concordance with inheritance information), and demonstrate a common clinical application by phasing CFTR alleles at genomic distances of 11-116 kb in the genomes of cystic fibrosis patients. Drop-Phase is rapid (requiring less than 4 hours), scalable (to hundreds of samples), and effective at long genomic distances (200 kb).
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