Search Results - "RAMSAY, MICHELE"
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African genomic data sharing and the struggle for equitable benefit
Published in Patterns (New York, N.Y.) (14-01-2022)“…Genomic and related health data from Africa remain scarce and are extremely valuable, due to an abundance of variants often rare or absent in the rest of the…”
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Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data
Published in BMC genomics (30-01-2018)“…Runs of Homozygosity (ROH) are genomic regions where identical haplotypes are inherited from each parent. Since their first detection due to technological…”
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African genetic diversity and adaptation inform a precision medicine agenda
Published in Nature reviews. Genetics (01-05-2021)“…The deep evolutionary history of African populations, since the emergence of modern humans more than 300,000 years ago, has resulted in high genetic diversity…”
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Runs of homozygosity: windows into population history and trait architecture
Published in Nature reviews. Genetics (01-04-2018)“…Key Points The inheritance of identical haplotypes from a common ancestor creates long tracts of homozygous genotypes known as runs of homozygosity (ROH). ROH…”
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Marianne Alberts (1928-2020) : caring, compassionate and humble biochemist and pioneer
Published in South African Journal of Science (01-03-2021)“…Her legacy project was to establish the Dikgale Health and Demographic Surveillance System (DHDSS) and Research Centre in 1995. The DHDSS was a founder member…”
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Africa: Continent of genome contrasts with implications for biomedical research and health
Published in FEBS letters (31-08-2012)“…The genomic architecture of African populations is poorly understood and there is considerable variation between ethno-linguistic groups. Genome-wide…”
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Has translational genomics come of age in Africa?
Published in Human molecular genetics (01-10-2021)“…Abstract The rapid increase in genomics research in Africa and the growing promise of precision public health (PPH) begs the question of whether African…”
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Genetic and epigenetic insights into fetal alcohol spectrum disorders
Published in Genome medicine (28-04-2010)“…The magnitude of the detrimental effects following in utero alcohol exposure, including fetal alcohol syndrome and other fetal alcohol spectrum disorders…”
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Non-invasive harvesting of conjunctival cells for whole transcriptome sequencing
Published in Experimental eye research (01-09-2023)“…The purpose of this study was to determine the feasibility of using a non-invasive technique, the EYEPRIM™ conjunctival cell impression device, to harvest…”
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Growing genomic research on the African continent: The H3Africa Consortium
Published in South African medical journal (01-12-2015)Get full text
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Evolutionary genomics in Africa
Published in Human molecular genetics (26-04-2021)Get full text
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Sydney Brenner (1927–2019) : the opening game
Published in South African Journal of Science (01-07-2019)“…In his memoire, My Life in Science (BioMed Central Limited; 2001), Sydney Brenner described his greatest skill as ‘getting things started’. Throughout his…”
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African genetic diversity provides novel insights into evolutionary history and local adaptations
Published in Human molecular genetics (01-08-2018)“…Abstract Genetic variation and susceptibility to disease are shaped by human demographic history and adaptation. We can now study the genomes of extant…”
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APOL1 Risk Variants Are Strongly Associated with HIV-Associated Nephropathy in Black South Africans
Published in Journal of the American Society of Nephrology (01-11-2015)“…APOL1 variants are associated with HIV-associated nephropathy and FSGS in African Americans. The prevalence of these variants in African populations with CKD…”
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Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis
Published in Clinical rheumatology (01-03-2019)“…The objective was to explore changes in gene expression in Wnt pathway genes in skin samples of black South Africans with diffuse cutaneous systemic sclerosis…”
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Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations
Published in Annual review of genomics and human genetics (31-08-2018)“…This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saharan Africa…”
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Ancestry-aligned polygenic scores combined with conventional risk factors improve prediction of cardiometabolic outcomes in African populations
Published in Genome medicine (26-08-2024)“…Cardiovascular diseases (CVD) are a major health concern in Africa. Improved identification and treatment of high-risk individuals can reduce adverse health…”
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The H3Africa policy framework: negotiating fairness in genomics
Published in Trends in genetics (01-03-2015)“…Human Heredity and Health in Africa (H3Africa) research seeks to promote fair collaboration between scientists in Africa and those from elsewhere. Here, we…”
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Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories
Published in Human genetics (01-10-2019)“…The study of runs of homozygosity (ROH) can shed light on population demographic history and cultural practices. We present a fine-scale ROH analysis of 1679…”
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