ReviewAmerican journal of epidemiology2017
Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis.
Review in American journal of epidemiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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
34 citing papers in PubMed.
- Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening.PloS one · 2018Trial
- A DNA language model based on multispecies alignment predicts the effects of genome-wide variants.Nature biotechnology · 2025Article
- A Strategy for Single-Run Sequencing of the Water Buffalo Genome: (II) Fast One-Step Assembly of Highly Continuous Chromosome Sequences.Animals : an open access journal from MDPI · 2025Article
- GPN-MSA: an alignment-based DNA language model for genome-wide variant effect prediction.bioRxiv : the preprint server for biology · 2024Article
- Combining rare and common genetic variants improves population risk stratification for breast cancer.Genetics in medicine open · 2024Article
- Highly Sensitive and Selective DNA Sequencing Device Using Metal Adatom Adsorption on 2D Phosphorene.ACS omega · 2023Article
- Microbial community structure dynamics of invasive bullfrog with meningitis-like infectious disease.Frontiers in microbiology · 2023Article
- A paradigm shift in pharmacogenomics: From candidate polymorphisms to comprehensive sequencing.Basic & clinical pharmacology & toxicology · 2022Review
- Evaluation of vicinity-based hidden Markov models for genotype imputation.BMC bioinformatics · 2022Article
- Clinical validation of genomic functional screen data: Analysis of observedHGG advances · 2022Article
- Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Preliminary Observation of the Changes in the Intestinal Flora of Patients With Graves' Disease Before and After Methimazole Treatment.Frontiers in cellular and infection microbiology · 2022Article
- Treating Duchenne Muscular Dystrophy: The Promise of Stem Cells, Artificial Intelligence, and Multi-Omics.Frontiers in cardiovascular medicine · 2022Review
- Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation.Cell systems · 2021Article
- The Effect ofPolish journal of microbiology · 2021Article
- miR-584 and miR-146 are candidate biomarkers for acute respiratory distress syndrome.Experimental and therapeutic medicine · 2021Article
- X-ray Ptychography Imaging of Human Chromosomes After Low-dose Irradiation.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2021Article
- Gene Size Matters: An Analysis of Gene Length in the Human Genome.Frontiers in genetics · 2021Article
- Decoding Plant-Environment Interactions That Influence Crop Agronomic Traits.Plant & cell physiology · 2020Review
- Differential long non-coding RNA expression profiles in the peripheral blood and CD4Experimental and therapeutic medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
Most human diseases have underlying genetic causes. To better understand the impact of genes on disease and its implications for medicine and public health, researchers have pursued methods for determining the sequences of individual genes, then all genes, and now complete human genomes. Massively parallel high-throughput sequencing technology, where DNA is sheared into smaller pieces, sequenced, and then computationally reordered and analyzed, enables fast and affordable sequencing of full human genomes. As the price of sequencing continues to decline, more and more individuals are having their genomes sequenced. This may facilitate better population-level disease subtyping and characterization, as well as individual-level diagnosis and personalized treatment and prevention plans. In this review, we describe several massively parallel high-throughput DNA sequencing technologies and their associated strengths, limitations, and error modes, with a focus on applications in epidemiologic research and precision medicine. We detail the methods used to computationally process and interpret sequence data to inform medical or preventative action.
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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.