ArticlePloS one2016
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Frequencies of BCR::ABL1 Transcripts in Patients with Chronic Myeloid Leukemia: A Meta-Analysis.Genes · 2024Pooled it
- Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.BMC medical genomics · 2024Article
- Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.Molecular genetics & genomic medicine · 2023Article
- Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata.Orphanet journal of rare diseases · 2021Article
- The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.NPJ genomic medicine · 2021Article
- Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.Brain : a journal of neurology · 2020Article
- The genetic landscape of the human solute carrier (SLC) transporter superfamily.Human genetics · 2019Article
- Sickle cell disease up-regulates vasopressin, aquaporin 2, urea transporter A1, Na-K-Cl cotransporter 2, and epithelial Na channels in the mouse kidney medulla despite compromising urinary concentration ability.Physiological reports · 2019Article
- Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.Scientific reports · 2019Article
- Genetics of Obesity in Diverse Populations.Current diabetes reports · 2018Review
- Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.Scientific reports · 2018Article
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1 author.
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Abstract
Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but it is challenging to find reliable epidemiological values for rare disorders. Here, I provide a genetic epidemiology method to identify the causative mutations behind rare, inherited disorders using two population exome sequences (1000 Genomes and NHLBI). I created global maps of carrier rate distribution for 18 recessive disorders in 16 diverse ethnic populations. Out of a total of 161 mutations associated with 18 recessive disorders, I detected 24 mutations in either or both exome studies. The genetic mapping revealed strong international spatial heterogeneities in the carrier patterns of the inherited disorders. I next validated this methodology by statistically evaluating the carrier rate of one well-understood disorder, sickle cell anemia (SCA). The population exome-based epidemiology of SCA [African (allele frequency (AF) = 0.0454, N = 2447), Asian (AF = 0, N = 286), European (AF = 0.000214, N = 4677), and Hispanic (AF = 0.0111, N = 362)] was not significantly different from that obtained from a clinical prevalence survey. A pair-wise proportion test revealed no significant differences between the two exome projects in terms of AF (46/48 cases; P > 0.05). I conclude that population exome-based carrier rates can form the foundation for a prospectively maintained database of use to clinical geneticists. Similar modeling methods can be applied to many inherited disorders.
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