Reference health
Practical guide for managing large-scale human genome data in research
62/62 checkable references clean · checked 2026-07-14
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a publisher retraction, withdrawal, or removal notice.
12 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 62 checked references that resolve
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Integrating common and rare genetic variation in diverse human populations
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Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals
resolves10.1093/bioinformatics/btp324
Fast and accurate short read alignment with Burrows–Wheeler transform
resolves10.1126/science.aay5012
Insights into human genetic variation and population history from 929 diverse genomes
resolves10.1038/nature18964
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
resolves10.1038/s41586-019-1793-z
The GenomeAsia 100K Project enables genetic discoveries across Asia
resolves10.1371/journal.pmed.1001779
UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age
resolves10.1038/s41586-020-2434-2
Whole-genome sequencing of patients with rare diseases in a national health system
resolves10.1038/s41586-019-1457-z
Exome sequencing of Finnish isolates enhances rare-variant association power
resolves10.1093/ije/dyz169
Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective
resolves10.1038/ncomms9018
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
resolves10.1016/j.ajhg.2018.04.001
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative
resolves10.1038/clpt.2008.89
Development of a Large-Scale De-Identified DNA Biobank to Enable Personalized Medicine
resolves10.1126/science.aaf6814
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
resolves10.1016/j.ajhg.2019.07.018
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
resolves10.1534/genetics.115.178616
Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
resolves10.1016/j.jclinepi.2015.09.016
Million Veteran Program: A mega-biobank to study genetic influences on health and disease
resolves10.1093/ije/dys160
Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics
resolves10.1093/ije/dyr120
China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up
resolves10.1101/gr.114819.110
Efficient storage of high throughput DNA sequencing data using reference-based compression
resolves10.1101/gr.107524.110
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
resolves10.1038/ng.806
A framework for variation discovery and genotyping using next-generation DNA sequencing data
resolves10.1038/nbt.2514
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
resolves10.5808/GI.2020.18.1.e10
Accelerating next generation sequencing data analysis: an evaluation of optimized best practices for Genome Analysis Toolkit algorithms
resolves10.1101/2020.03.27.011767
Accuracy and efficiency of germline variant calling pipelines for human genome data
resolves10.1101/115717
The Sentieon Genomics Tools - A fast and accurate solution to variant calling from next-generation sequence data
resolves10.1016/j.plabm.2020.e00168
Practical estimation of cloud storage costs for clinical genomic data
resolves10.1007/s00439-018-1919-7
International data-sharing norms: from the OECD to the General Data Protection Regulation (GDPR)
resolves10.1186/s13073-017-0449-6
Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally
resolves10.1111/1756-185X.12929
Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease
resolves10.1109/CLOUD.2016.0107
Reproducible Scientific Computing Environment with Overlay Cloud Architecture
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A user-friendly, high-throughput tool for the precise fluorescent quantification of deoxyribonucleoside triphosphates from biological samples
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SINET5: A low-latency and high-bandwidth backbone network for SDN/NFV Era
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BioContainers: an open-source and community-driven framework for software standardization
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The nf-core framework for community-curated bioinformatics pipelines
resolves10.1109/CANOPIE-HPC49598.2019.00010
HPC Container Runtimes have Minimal or No Performance Impact
resolves10.1007/978-3-030-02738-4_14
Dynamic Framework for Reconfiguring Computing Resources in the Inter-cloud and Its Application to Genome Analysis Workflows
resolves10.1109/CloudCom.2017.48
Virtual Cloud Service System for Building Effective Inter-Cloud Applications
resolves10.1093/nar/gky379
The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update
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DolphinNext: a distributed data processing platform for high throughput genomics
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The Dockstore: enabling modular, community-focused sharing of Docker-based genomics tools and workflows
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United States: law and policy concerning transfer of genomic data to third countries
The 12 references without a DOI — listed, not checked
no DOI — not checkedTaliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. bioRxiv. 2019. https://www.biorxiv.org/content/10.1101/563866v1
no DOI — not checkedAbul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, et al. Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. Genome Med. 2020;12:2.
no DOI — not checkedLangmead B, Trapnell C, Pop M, Salzberg SL. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol. 2009;10:R25.
no DOI — not checkedGeraldine A, Van,der, Auwera., Brian. DOC Genomics in the Cloud. Boston: O’Reilly Media; 2020.
no DOI — not checkedWe want to hear from you about changes to NIH’s Sequence Read Archive data format and storage. NCBI Insights; 2020. https://ncbiinsights.ncbi.nlm.nih.gov/2020/06/30/sra-rfi/.
no DOI — not checkedMulticloud: Everything you need to know about the biggest trend in cloud computing. ZDNet; 2019. https://www.zdnet.com/article/multicloud-everything-you-need-to-know-about-the-biggest-trend-in-cloud-computing/.
no DOI — not checkedMarkel, D. Docker: Lightweight Linux Containers for Consistent Development and Deployment. Linux Journal. Houston, TX: Belltown Media; 2014;2014:2.
no DOI — not checkedRoom S. Data Protection and Compliance in Context. Swindon: British Informatics Society; 2006.
no DOI — not checkedPersonal Information Protection Commission. Collection and use of personal information by Japanese public authorities for criminal law enforcement and national security purposes. Personal Information Protection Commission; 2018. https://www.ppc.go.jp/files/pdf/letter_government_access.pdf.
no DOI — not checkedPersonal Information Protection Commission. The framework for mutual and smooth transfer of personal data between Japan and the European Union has come into force. Japan: Personal Information Protection Commission; 2019. https://www.ppc.go.jp/en/aboutus/roles/international/cooperation/20190123/.
no DOI — not checkedYamamoto R. Introduction of “security guidelines for medical information systems. Japan: Ministry of Health, Labor and Welfare of Japan; 2005.
no DOI — not checkedYamamoto R. On the “Security Guidelines for Medical Information Systems by Ministry of Health second edition”. Japanese Society of Radiological Technology. 2007.
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