ReviewJournal of human genetics2021
Practical guide for managing large-scale human genome data in research.
Review in Journal of human genetics, 2021. 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, 66 citations in OpenAlex.
- Structural Variant benchmarking frameworks: Parameterization, matching logic, and evaluation assumptions presented through HG002 and NA12878.PLoS computational biology · 2026Article
- Tutorial for variant interrogation in tumor samples.PLoS computational biology · 2026Article
- FAIR Omics Data Management: Overview, Challenges, and Best Practices.Advances in experimental medicine and biology · 2026Review
- GenRiskPro: A Comprehensive Whole-Genome Sequencing Analysis Platform for Clinical and Wellness Applications.Computational and structural biotechnology journal · 2026Article
- Bioinformatics and artificial intelligence in genomic data analysis: current advances and future directions.Molecular genetics and genomics : MGG · 2025Review
- Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2025Review
- A scoping review of human genetic resources management policies and databases in high- and middle-low-income countries.BMC medical ethics · 2025Article
- Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.Genomics & informatics · 2025Review
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- Machine Learning Methods for Classifying Multiple Sclerosis and Alzheimer's Disease Using Genomic Data.International journal of molecular sciences · 2025Article
- Overture: an open-source genomics data platform.GigaScience · 2025Article
- Benchmarking accelerated next-generation sequencing analysis pipelines.Bioinformatics advances · 2025Article
- SQUiD: ultra-secure storage and analysis of genetic data for the advancement of precision medicine.Genome biology · 2024Article
- Next-generation data filtering in the genomics era.Nature reviews. Genetics · 2024Review
- Article
- tstrait: a quantitative trait simulator for ancestral recombination graphs.Bioinformatics (Oxford, England) · 2024Article
- Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery.NAR genomics and bioinformatics · 2024Article
- A general and efficient representation of ancestral recombination graphs.bioRxiv : the preprint server for biology · 2024Article
- Ultra-secure storage and analysis of genetic data for the advancement of precision medicine.bioRxiv : the preprint server for biology · 2024Article
- Automating the Illumina DNA library preparation kit for whole genome sequencing applications on the flowbot ONE liquid handler robot.Scientific reports · 2024Article
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 at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Studies in human genetics deal with a plethora of human genome sequencing data that are generated from specimens as well as available on public domains. With the development of various bioinformatics applications, maintaining the productivity of research, managing human genome data, and analyzing downstream data is essential. This review aims to guide struggling researchers to process and analyze these large-scale genomic data to extract relevant information for improved downstream analyses. Here, we discuss worldwide human genome projects that could be integrated into any data for improved analysis. Obtaining human whole-genome sequencing data from both data stores and processes is costly; therefore, we focus on the development of data format and software that manipulate whole-genome sequencing. Once the sequencing is complete and its format and data processing tools are selected, a computational platform is required. For the platform, we describe a multi-cloud strategy that balances between cost, performance, and customizability. A good quality published research relies on data reproducibility to ensure quality results, reusability for applications to other datasets, as well as scalability for the future increase of datasets. To solve these, we describe several key technologies developed in computer science, including workflow engine. We also discuss the ethical guidelines inevitable for human genomic data analysis that differ from model organisms. Finally, the future ideal perspective of data processing and analysis is summarized.
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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.