ArticleNature biotechnology2016
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing.
Article in Nature biotechnology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 396 papers.
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Who cites it
396 citing papers in PubMed.
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- Injury-transduced oligodendrocytes modulate neuroinflammation and glial activation in diseased and non-diseased central nervous system.Nature communications · 2026Article
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- LncRNAs in Ovarian Cancer: Emerging Insights and Future Perspectives in Tumor Biology and Clinical Applications.Cancers · 2026Review
- Enhancing variant detection in complex genomes: leveraging linked reads for robust SNP, Indel, and structural variant analysis.Research square · 2026Article
- A little longer, a lot better: simulation-guided exploration of extended-length single-end barcoded reads for structural variant detection.Bioinformatics advances · 2026Article
- Genome assemblies of IndianNAR genomics and bioinformatics · 2025Article
- Genomic Signatures and Demographic History of the Widespread and Critically Endangered Yellow-Breasted Bunting.Molecular ecology · 2025Article
- Single-cell transcriptomics of cervical lymph node tuberculosis reveals cellular heterogeneity and enhanced cellular communication.BMC immunology · 2025Article
- Single-cell transcriptomics of organoids reveals transcriptional control of germline stem cell fate by an E2F1-TFAP2C-SOX17 positive-feedback loop in Turner syndrome.Cell & bioscience · 2025Article
- A complete diploid human genome benchmark for personalized genomics.bioRxiv : the preprint server for biology · 2025Article
- Blended Length Genome Sequencing (blend-seq): Combining Short Reads with Low-Coverage Long Reads to Maximize Variant Discovery.bioRxiv : the preprint server for biology · 2025Article
- Illumina complete long read assay yields contiguous bacterial genomes from human gut metagenomes.mSystems · 2025Article
- Single-Nucleus RNA Sequencing and Spatial Transcriptomics Reveal Cellular Heterogeneity and Intercellular Communication Networks in the Hypothalamus-Pituitary-Ovarian Axis of Pregnant Mongolian Cattle.Animals : an open access journal from MDPI · 2025Article
- Review
336 more citing papers are in PubMed but not listed here.
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58 authors.
Funding
Abstract
Haplotyping of human chromosomes is a prerequisite for cataloguing the full repertoire of genetic variation. We present a microfluidics-based, linked-read sequencing technology that can phase and haplotype germline and cancer genomes using nanograms of input DNA. This high-throughput platform prepares barcoded libraries for short-read sequencing and computationally reconstructs long-range haplotype and structural variant information. We generate haplotype blocks in a nuclear trio that are concordant with expected inheritance patterns and phase a set of structural variants. We also resolve the structure of the EML4-ALK gene fusion in the NCI-H2228 cancer cell line using phased exome sequencing. Finally, we assign genetic aberrations to specific megabase-scale haplotypes generated from whole-genome sequencing of a primary colorectal adenocarcinoma. This approach resolves haplotype information using up to 100 times less genomic DNA than some methods and enables the accurate detection of structural variants.
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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.