Результаты поиска - Tamar Sofer
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Admixture mapping in the Hispanic Community Health Study/Study of Latinos reveals regions of genetic associations with blood pressure traits.
Опубликовано 2017-01-01Полный текстAdmixture mapping can be used to detect genetic association regions in admixed populations, such as Hispanics/Latinos, by estimating associations between local ancestry allele counts and the trait of interest. We performed admixture mapping of the blood pressure traits systolic and diastolic blood p...
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The impact of Mendelian sleep and circadian genetic variants in a population setting.
Опубликовано 2022-09-01Полный текстRare variants in ten genes have been reported to cause Mendelian sleep conditions characterised by extreme sleep duration or timing. These include familial natural short sleep (ADRB1, DEC2/BHLHE41, GRM1 and NPSR1), advanced sleep phase (PER2, PER3, CRY2, CSNK1D and TIMELESS) and delayed sleep phase...
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Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.
Опубликовано 2017-04-01Полный текстPrior GWAS have identified loci associated with red blood cell (RBC) traits in populations of European, African, and Asian ancestry. These studies have not included individuals with an Amerindian ancestral background, such as Hispanics/Latinos, nor evaluated the full spectrum of genomic variation be...
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Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos
Опубликовано 2025-08-01Полный текстBackground: Hereditary transthyretin amyloid cardiomyopathy is commonly caused by the Val122Ile variant, a mutation found in non-Hispanic individuals of West African descent but understudied among the Hispanic/Latino (H/L) population, despite their admixed genetic ancestry (African ancestry [AA], Eu...
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