11 Result(s)
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Juan L. Rodriguez-Flores
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Open AccessThe QChip1 knowledgebase and microarray for precision medicine in Qatar
Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations, but pathogenic risk variants that cause SGDs are typically population-private. The goal was to develop “QChip1,” an in...
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Open AccessMitochondrial haplogroup J associated with higher risk of obesity in the Qatari population
Obesity, a major risk factor for metabolic disorders, is highly prevalent in Qatari population. Maternal transmission of obesity traits can be significant; for example, X haplogroup is known to be associated w...
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Genetic Evaluation of Male Infertility
Male infertility affects 7% of all men worldwide, yet for the majority the underlying cause is not found. From the very first identified karyoty** abnormalities to the very recent discovery of point mutation...
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Open AccessWhole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population
Metabolomics-genome-wide association studies (mGWAS) have uncovered many metabolic quantitative trait loci (mQTLs) influencing human metabolic individuality, though predominantly in European cohorts. By combin...
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Open AccessThe Qatar genome: a population-specific tool for precision medicine in the Middle East
Reaching the full potential of precision medicine depends on the quality of personalized genome interpretation. In order to facilitate precision medicine in regions of the Middle East and North Africa (MENA), ...
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Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
Chris Tyler-Smith, Carlos Bustamante and colleagues report an analysis of 1,244 human Y chromosomes from the 1000 Genomes Project. They find that copy number variants have a higher predicted functional impact ...
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Open AccessCopy number variations in the genome of the Qatari population
The populations of the Arabian Peninsula remain the least represented in public genetic databases, both in terms of single nucleotide variants and of larger genomic mutations. We present the first high-resolut...
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Open AccessInferring genome-wide patterns of admixture in Qataris using fifty-five ancestral populations
Populations of the Arabian Peninsula have a complex genetic structure that reflects waves of migrations including the earliest human migrations from Africa and eastern Asia, migrations along ancient civilizati...
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Open AccessRNA-Seq quantification of the human small airway epithelium transcriptome
The small airway epithelium (SAE), the cell population that covers the human airway surface from the 6th generation of airway branching to the alveoli, is the major site of lung disease caused by smoking. The foc...
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Open AccessHuman Tyrosine Hydroxylase Natural Allelic Variation: Influence on Autonomic Function and Hypertension
The catecholamine biosynthetic pathway consists of several enzymatic steps in series, beginning with the amino acids phenylalanine and tyrosine, and eventuating in the catecholamines norepinephrine (noradrenal...
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Open AccessConserved regulatory motifs at phenylethanolamine N-methyltransferase (PNMT) are disrupted by common functional genetic variation: an integrated computational/experimental approach
The adrenomedullary hormone epinephrine transduces environmental stressors into cardiovascular events (tachycardia and hypertension). Although the epinephrine biosynthetic enzyme PNMT genetic locus displays both ...
