ArticleNature biotechnology2009
Single-molecule sequencing of an individual human genome.
Article in Nature biotechnology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 190 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
190 citing papers in PubMed, 439 citations in OpenAlex.
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- From DNA to Big Data: NGS Technologies and Their Applications.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Sequencing and Optical Genome Mapping for the Adventurous Chemist.Chemical & biomedical imaging · 2024Review
- An overview of recent technological developments in bovine genomics.Veterinary and animal science · 2024Review
- Utility analyses of AVITI sequencing chemistry.BMC genomics · 2024Article
- Utility Analyses of AVITI Sequencing Chemistry.bioRxiv : the preprint server for biology · 2024Article
- Effects of plants-associated microbiota on cultivation and quality of Chinese herbal medicines.Chinese herbal medicines · 2024Review
- Current Uses and Future Perspectives of Genomic Technologies in Clinical Microbiology.Antibiotics (Basel, Switzerland) · 2023Review
- Multi-omics approaches to studying gastrointestinal microbiome in the context of precision medicine and machine learning.Frontiers in molecular biosciences · 2023Review
- InnovativeFrontiers in genetics · 2022Review
- Third-Generation Sequencing: The Spearhead towards the Radical Transformation of Modern Genomics.Life (Basel, Switzerland) · 2021Review
- Nanopore sequencing technology, bioinformatics and applications.Nature biotechnology · 2021Review
- Ten Years of EWAS.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2021Review
- A virtual sequencer reveals the dephasing patterns in error-correction code DNA sequencing.National science review · 2021Article
- DNA sequencing, genomes and genetic markers of microbes on fruits and vegetables.Microbial biotechnology · 2021Review
- DNA methylation methods: Global DNA methylation and methylomic analyses.Methods (San Diego, Calif.) · 2021Review
- Understanding the Gastrointestinal Protective Effects of Polyphenols using Foodomics-Based Approaches.Frontiers in immunology · 2021Review
- An Overview of Genomics, Phylogenomics and Proteomics Approaches in Ascomycota.Life (Basel, Switzerland) · 2020Review
- Article
130 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Recent advances in high-throughput DNA sequencing technologies have enabled order-of-magnitude improvements in both cost and throughput. Here we report the use of single-molecule methods to sequence an individual human genome. We aligned billions of 24- to 70-bp reads (32 bp average) to approximately 90% of the National Center for Biotechnology Information (NCBI) reference genome, with 28x average coverage. Our results were obtained on one sequencing instrument by a single operator with four data collection runs. Single-molecule sequencing enabled analysis of human genomic information without the need for cloning, amplification or ligation. We determined approximately 2.8 million single nucleotide polymorphisms (SNPs) with a false-positive rate of less than 1% as validated by Sanger sequencing and 99.8% concordance with SNP genotyping arrays. We identified 752 regions of copy number variation by analyzing coverage depth alone and validated 27 of these using digital PCR. This milestone should allow widespread application of genome sequencing to many aspects of genetics and human health, including personal genomics.
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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.