Communication of genetic information to at‐risk relatives during the multidisciplinary monitoring of vascular Ehlers–Danlos syndrome in a French referral clinic
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1211
Abstract: Vascular Ehlers–Danlos syndrome (vEDS) is a rare inherited disorder leading to arterial, digestive, and uterine complications due to pathogenic COL3A1 variants. Identification of causal variants allows family screening, provided that relatives have previously been informed,… read more here.
Keywords: communication genetic; risk; information; diagnosis ... See more keywords
Genetic counselors, patients', and carers' views on an Australian clinical genetics service information system.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1412
Abstract: The Genetic Information System (GIS) is an Australian database of family genetic information. This health information technology system has been used by all 31 publicly operated clinical genetics services across New South Wales (NSW) and… read more here.
Keywords: information; genetic counselors; system; genetics ... See more keywords
Genetic discrimination views in online discussion forums: Perspectives from Canadian forumites.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1427
Abstract: Recent advancements in genetic technologies have made genetic information increasingly sought out in a wide range of non-therapeutic contexts, which has increased the risk that such information be used to discriminate against individuals. Frequently, it… read more here.
Keywords: discussion forums; information; genetic discrimination; online discussion ... See more keywords
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
Genetics of human autoimmunity: From genetic information to functional insights.
Sign Up to like & getrecommendations! Published in 2018 at "Clinical immunology"
DOI: 10.1016/j.clim.2017.08.017
Abstract: Genome-wide association studies have identified hundreds of risk variants associated with human autoimmune diseases. Recent evidence suggests that a substantial portion of them affect gene expression in specific cell types. To obtain the functional insights… read more here.
Keywords: human autoimmunity; genetics human; genetics; functional insights ... See more keywords
Machine learning algorithms, bull genetic information, and imbalanced datasets used in abortion incidence prediction models for Iranian Holstein dairy cattle.
Sign Up to like & getrecommendations! Published in 2019 at "Preventive veterinary medicine"
DOI: 10.1016/j.prevetmed.2019.104869
Abstract: The ability to predict abortion incidence, especially in regions with high abortion rates (e.g., Iran), helps improve reproductive performance and, thereby, dairy farm profitability. The objective of this study was to predict pregnancy loss in… read more here.
Keywords: abortion; dataset; genetic information; dairy ... See more keywords
Exploring the Chemistry of Genetic Information Storage and Propagation through Polymerase Engineering
Sign Up to like & getrecommendations! Published in 2017 at "Accounts of Chemical Research"
DOI: 10.1021/acs.accounts.7b00056
Abstract: Conspectus Nucleic acids are a distinct form of sequence-defined biopolymer. What sets them apart from other biopolymers such as polypeptides or polysaccharides is their unique capacity to encode, store, and propagate genetic information (molecular heredity).… read more here.
Keywords: genetic polymers; chemistry; heredity; genetic information ... See more keywords
A Semi-Synthetic Organism that Stores and Retrieves Increased Genetic Information
Sign Up to like & getrecommendations! Published in 2017 at "Nature"
DOI: 10.1038/nature24659
Abstract: Since at least the last common ancestor of all life on Earth, genetic information has been stored in a four-letter alphabet that is propagated and retrieved by the formation of two base pairs. The central… read more here.
Keywords: information; semi synthetic; base; genetic information ... See more keywords
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-017-0084-0
Abstract: This study aimed to examine the choice pregnant women make about the amount of fetal genetic information they want from chromosome microarray. Women having invasive prenatal testing in the absence of fetal structural abnormality were… read more here.
Keywords: information; women different; pregnant women; offering pregnant ... See more keywords
Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-79804-y
Abstract: SCNN1B encodes the beta subunit of the epithelial sodium channel ENaC. Previously, we reported an association between SNP markers of SCNN1B gene and disease severity in cystic fibrosis-affected sibling pairs. We hypothesized that factors interacting… read more here.
Keywords: sibling pairs; discordant sibling; information discordant; genetic information ... See more keywords
Refactored genetic codes enable bidirectional genetic isolation
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DOI: 10.1126/science.add8943
Abstract: The near-universal genetic code defines the correspondence between codons in genes and amino acids in proteins. We refactored the structure of the genetic code in Escherichia coli and created orthogonal genetic codes that restrict the… read more here.
Keywords: genetic information; genetic code; genetic codes; code ... See more keywords