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The need for genetic variant naming standards in published abstracts of human genetic association studies
Published 2009-04-01“…<p>Abstract</p> <p>We analyzed the use of RefSNP (rs) numbers to identify genetic variants in abstracts of human genetic association studies published from 2001 through 2007. …”
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The phenylalanine hydroxylase locus: A marker for the history of phenylketonuria and human genetic diversity - Discussion
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European Society of Human Genetics (ESHG) Conference, June 6–9, 2015, Glasgow, UK
Published 2015-07-01Get full text
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Validation of lipid-related therapeutic targets for coronary heart disease prevention using human genetics
Published 2021-10-01Get full text
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Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes
Published 2022Journal article -
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Life on top-working@ the Wellcome Trust Centre for Human Genetics: Scotland Yard for DNA detectives.
Published 2008“…The Wellcome Trust Centre for Human Genetics (WTCHG) was established in 1994 to undertake research into the genetic basis of common diseases. …”
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Regulating human genetic research in Latin America: a race to the top or a race together?
Published 2016-05-01Subjects: “…Human genetics policy, ethics, governance, Latin America…”
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Leveraging type 1 diabetes human genetic and genomic data in the T1D knowledge portal.
Published 2023-08-01Get full text
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Whole-transcriptome sequencing–based concomitant detection of viral and human genetic determinants of cutaneous lesions
Published 2022-04-01“…This automated, online, all-in-one computational pipeline, called VirPy, enables simultaneous detection of the viral triggers and the human genetic variants underlying skin lesions in patients with suspected IEI and viral dermatosis.…”
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Human Genetic Variation and Yellow Fever Mortality during 19th Century U.S. Epidemics
Published 2014-07-01“…We propose that the remarkably lower case mortality rates for individuals of non-Caucasian ancestry is the result of human genetic variation in loci encoding innate immune mediators. …”
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Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines
Published 2018-07-01“…Current evidence suggests that human genetic variation influences (i) serum immunoglobulin levels, (ii) seroconversion rates, and (iii) intensity of antigen-specific immune responses. …”
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Corrigendum: A CRISPR New World: Attitudes in the Public toward Innovations in Human Genetic Modification
Published 2017-07-01Get full text
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