ReviewBriefings in bioinformatics2010
Challenges of sequencing human genomes.
Review in Briefings in bioinformatics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 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
71 citing papers in PubMed.
- SCANBIT facilitates identification of tumor cell populations in scRNAseq data using pseudobulked SNV calls.bioRxiv : the preprint server for biology · 2026Article
- Cell-free DNA in sepsis: from molecular insights to clinical management.Military Medical Research · 2025Review
- Chromosome-level genome assembly, annotation, and population genomic resource of argali (Ovis ammon).Scientific data · 2025Article
- Biostatistical Aspects of Whole Genome Sequencing Studies: Preprocessing and Quality Control.Biometrical journal. Biometrische Zeitschrift · 2024Article
- Revolutionizing Malaria Vector Control: The Importance of Accurate Species Identification through Enhanced Molecular Capacity.Microorganisms · 2023Review
- Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.International journal of neonatal screening · 2023Article
- Haplotype-specific insertion-deletion variations for allele-specific targeting in Huntington's disease.Molecular therapy. Methods & clinical development · 2022Article
- Identifying radiation responsive exon-regions of genes often used for biodosimetry and acute radiation syndrome prediction.Scientific reports · 2022Article
- Whole Genome Sequencing Contributions and Challenges in Disease Reduction Focused on Malaria.Biology · 2022Review
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- Bioinformatics Strategies, Challenges, and Opportunities for Next Generation Sequencing-Based HLA Genotyping.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2019Review
- Uncovering missed indels by leveraging unmapped reads.Scientific reports · 2019Article
- Applications and analysis of targeted genomic sequencing in cancer studies.Computational and structural biotechnology journal · 2019Review
- ReliableGenome: annotation of genomic regions with high/low variant calling concordance.Bioinformatics (Oxford, England) · 2017Article
- Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing.Methods in molecular biology (Clifton, N.J.) · 2017Article
- Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Small RNA-Based Antiviral Defense in the Phytopathogenic Fungus Colletotrichum higginsianum.PLoS pathogens · 2016Article
- Characterizing Benzo[a]pyrene-induced lacZ mutation spectrum in transgenic mice using next-generation sequencing.BMC genomics · 2015Article
- Initiative for standardization of the format of the next-generation sequencing (NGS) results.Discoveries (Craiova, Romania) · 2015Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Massively parallel sequencing technologies continue to alter the study of human genetics. As the cost of sequencing declines, next-generation sequencing (NGS) instruments and datasets will become increasingly accessible to the wider research community. Investigators are understandably eager to harness the power of these new technologies. Sequencing human genomes on these platforms, however, presents numerous production and bioinformatics challenges. Production issues like sample contamination, library chimaeras and variable run quality have become increasingly problematic in the transition from technology development lab to production floor. Analysis of NGS data, too, remains challenging, particularly given the short-read lengths (35-250 bp) and sheer volume of data. The development of streamlined, highly automated pipelines for data analysis is critical for transition from technology adoption to accelerated research and publication. This review aims to describe the state of current NGS technologies, as well as the strategies that enable NGS users to characterize the full spectrum of DNA sequence variation in humans.
Indexed as
Identifiers
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.