ReviewCold Spring Harbor perspectives in medicine2014
Personalized medicine and human genetic diversity.
Review in Cold Spring Harbor perspectives in medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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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.
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Who cites it
71 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Association Between REELIN Gene Polymorphisms (rs7341475 and rs262355) and Risk of Schizophrenia: an Updated Meta-analysis.Journal of molecular neuroscience : MN · 2021Pooled it
- Precision oncology without borders: the role of biobanking in integrating Africa's genetic diversity into global genomic research.NPJ precision oncology · 2026Review
- Passage-Dependent Size Distributions of Human-Derived Cells: Implications for Metabolic Assays.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Insights into human adaptation from ancient DNA.Nature genetics · 2026Review
- The MOGA multi-modal framework based on graph augmentation networks for drug response prediction.iScience · 2026Article
- ReverseGWAS identifies combined phenotypes associated with a genotype in GWA studies.Bioinformatics (Oxford, England) · 2026Article
- FRAME: fast reference-based ancestry makeup estimation tool.Bioinformatics advances · 2026Article
- Association Between Serum Growth Factors and Risk of Acute Exacerbation in Chronic Obstructive Pulmonary Disease: A One-Year Prospective Study.International journal of molecular sciences · 2025Article
- IMGTNAR genomics and bioinformatics · 2025Article
- Identifying Rare Germline Variants Associated with Metastatic Prostate Cancer Through an Extreme Phenotype Study.medRxiv : the preprint server for health sciences · 2025Article
- Multiplex-PCR technique to predict polymorphic antigens - M, N, S and s - and associations between their alleles and MiScientific reports · 2025Article
- Language Modelling Techniques for Analysing the Impact of Human Genetic Variation.Bioinformatics and biology insights · 2025Review
- Artificial intelligence in variant calling: a review.Frontiers in bioinformatics · 2025Review
- Alleviating the public health burden of hypertension: debating precision prevention as a possible solution.Global health action · 2024Article
- Size-related variability of oxygen consumption rates in individual human hepatic cells.Lab on a chip · 2024Article
- Whole genome sequencing of mouse lines divergently selected for fatness (FLI) and leanness (FHI) revealed several genetic variants as candidates for novel obesity genes.Genes & genomics · 2024Article
- Genetic Determinants of Response to Statins in Cardiovascular Diseases.Current cardiology reviews · 2024Review
- Joint Analysis of Phenotypic and Genomic Diversity Sheds Light on the Evolution of Xenobiotic Metabolism in Humans.Genome biology and evolution · 2022Article
- Article
- Precision Nomothetic Medicine in Depression Research: A New Depression Model, and New Endophenotype Classes and Pathway Phenotypes, and A Digital Self.Journal of personalized medicine · 2022Article
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
No grant is acknowledged in the PubMed record.
Abstract
Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay-Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally.
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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.