[HTML][HTML] The illusion of polygenic disease risk prediction

NJ Wald, R Old - Genetics in Medicine, 2019 - Elsevier
A problem at the interface of genomic medicine and medical screening is that genetic
associations of etiological significance are often interpreted as having predictive significance. …

Tumor mutation burden and prognosis in patients with colorectal cancer treated with adjuvant fluoropyrimidine and oxaliplatin

DW Lee, SW Han, JM Bae, H Jang, H Han, H Kim… - Clinical Cancer …, 2019 - AACR
… In our patient cohort, 8 or more mutations in the 40 genes was defined as TMB-high, which
best discriminated RFS. A total of 55 patients (10.7%) had TMB-high. TMB-high tumors were …

Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA

JM Wolter, H Mao, G Fragola, JM Simon, JL Krantz… - Nature, 2020 - nature.com
did not detect changes in expression or splicing patterns of known Snord115 target genes
in AS mice treated … /or mutagenesis of some Snord115 genes does not compromise putative …

Regulatory R-loops as facilitators of gene expression and genome stability

C Niehrs, B Luke - Nature reviews Molecular cell biology, 2020 - nature.com
… This is supported by the structure of the RNA polymerase complex demonstrating that RNA
and DNA are extruded from the complex at different exit channels, which would prevent an R-…

The genetics of obesity: from discovery to biology

RJF Loos, GSH Yeo - Nature Reviews Genetics, 2022 - nature.com
… Finally, as we enter the post-genomic era, we consider the prospects of genotype-informed
treatments and the possibility of leveraging genetics to predict and hence prevent obesity. …

[HTML][HTML] Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

…, A Huq, L Petelin, M Nelson, PA James, I Winship… - Genetics in …, 2019 - Elsevier
… , screening would lead to substantial savings in medical costs and DALYs prevented, at a …
also risk increasing the propensity for genetic discrimination, marginalization, or stigmatization. …

Engineering living therapeutics with synthetic biology

A Cubillos-Ruiz, T Guo, A Sokolovska… - Nature Reviews Drug …, 2021 - nature.com
The steadfast advance of the synthetic biology field has enabled scientists to use genetically
engineered cells, instead of small molecules or biologics, as the basis for the development …

Prediction and prevention of type 1 diabetes

M Primavera, C Giannini, F Chiarelli - Frontiers in endocrinology, 2020 - frontiersin.org
… These results have offered the possibility of identifying people at risk and to follow them
during the years, in order to try to prevent or revert the progression of T1D. Nevertheless, genetic

[图书][B] Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal, and social issues. A report of the WHO Science …

World Health Organization - 2022 - books.google.com
… The final session included perspectives on funding to decrease health disparities; an
indigenous perspective on genomics from Canada; and legislation to prevent the misuse of genetic

Recent findings in the genetics and epigenetics of asthma and allergy

M Kabesch, J Tost - Seminars in immunopathology, 2020 - Springer
… without genetic susceptibility. Although not investigated in this study, such an association
could also be … Thus, new and exciting evidence from genetics points towards the skin to have a …