Property and human genetic information
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Community Genetics"
DOI: 10.1007/s12687-018-0366-4
Abstract: Do donors (of samples from which genetic information is derived) have some sort of pre-legal (moral) or legal property right to that information? In this paper, we address this question from both a moral philosophical… read more here.
Keywords: information; human genetic; property human; property ... See more keywords
The COVID-19 Pandemic from a Human Genetic Perspective
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Proteome Research"
DOI: 10.1021/acs.jproteome.0c00671
Abstract: The coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has impacted a large portion of the world population. From a virus genetic perspective, a recent study described what genomic data… read more here.
Keywords: human genetic; pandemic human; covid; genetic perspective ... See more keywords
Calls grow to tap the gold mine of human genetic knockouts
Sign Up to like & getrecommendations! Published in 2017 at "Nature Reviews Drug Discovery"
DOI: 10.1038/nrd.2017.139
Abstract: A Human Knockout Project would systematically search for loss-of-function genetic mutations in humans to help uncover new drug targets. A Human Knockout Project would systematically search for loss-of-function genetic mutations in humans to help uncover… read more here.
Keywords: grow tap; mine human; human genetic; gold mine ... See more keywords
RNA-binding proteins in human genetic disease
Sign Up to like & getrecommendations! Published in 2020 at "Nature Reviews Genetics"
DOI: 10.1038/s41576-020-00302-y
Abstract: RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their malfunction underlies the origin of many diseases. RBPs can recognize hundreds of transcripts and form extensive regulatory networks that help to maintain… read more here.
Keywords: binding proteins; human genetic; rna binding; disease ... See more keywords
The influence of human genetic variation on Epstein–Barr virus sequence diversity
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-84070-7
Abstract: Epstein–Barr virus (EBV) is one of the most common viruses latently infecting humans. Little is known about the impact of human genetic variation on the large inter-individual differences observed in response to EBV infection. To… read more here.
Keywords: epstein barr; variation; human genetic; barr virus ... See more keywords
Functional characterization of 3D protein structures informed by human genetic diversity
Sign Up to like & getrecommendations! Published in 2019 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.1820813116
Abstract: Significance Increasing numbers of human genome population sequences provide new detail on the genetic variability of the human proteome. It is possible to identify proteins that are depleted in genetic variation, and this approach can… read more here.
Keywords: protein structures; variation; human genetic; functional characterization ... See more keywords
VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases.
Sign Up to like & getrecommendations! Published in 2021 at "Nucleic acids research"
DOI: 10.1093/nar/gkab853
Abstract: Interpreting the molecular mechanism of genomic variations and their causal relationship with diseases/traits are important and challenging problems in the human genetic study. To provide comprehensive and context-specific variant annotations for biologists and clinicians, here,… read more here.
Keywords: vannoportal multiscale; human genetic; multiscale functional; annotation ... See more keywords
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Sign Up to like & getrecommendations! Published in 2021 at "Nucleic acids research"
DOI: 10.1093/nar/gkab939
Abstract: The availability of genetic variants, together with phenotypic annotations from model organisms, facilitates comparing these variants with equivalent variants in humans. However, existing databases and search tools do not make it easy to scan for… read more here.
Keywords: convart search; search engine; search; human genetic ... See more keywords
Celebrating 50 years since Lewontin's apportionment of human diversity
Sign Up to like & getrecommendations! Published in 2022 at "Philosophical Transactions of the Royal Society B: Biological Sciences"
DOI: 10.1098/rstb.2020.0405
Abstract: ‘85% of human genetic variation resides within populations’—Richard Lewontin’s result and sound bite, tracing to his 1972 article ‘The apportionment of human diversity’ [1], have become indispensable to descriptions of worldwide human genetic variation. In… read more here.
Keywords: lewontin; human diversity; human genetic; apportionment human ... See more keywords
Modeling Human Genetic Disorders with CRISPR Technologies in Xenopus.
Sign Up to like & getrecommendations! Published in 2021 at "Cold Spring Harbor protocols"
DOI: 10.1101/pdb.prot106997
Abstract: Combining the power of Xenopus developmental biology with CRISPR-based technologies promises great discoveries in understanding and treating human genetic disorders. Here we provide a practical pipeline for how to go from known disease gene(s) or… read more here.
Keywords: disorders crispr; crispr technologies; modeling human; human genetic ... See more keywords
Mechanisms underlying human genetic diversity: consequence for antigraft antibody responses
Sign Up to like & getrecommendations! Published in 2018 at "Transplant International"
DOI: 10.1111/tri.13059
Abstract: This review focuses on the emerging concept of genomewide genetic variation as basis of an alloimmune response. Chronic antibody‐mediated rejection is the major cause of long‐term graft loss and growing evidence supports the clinical relevance… read more here.
Keywords: diversity consequence; human genetic; genetic diversity; antibody ... See more keywords