Tailoring information provision and consent processes to research contexts: the value of rapid assessments

Guidance requires that consent processes for research be appropriately tailored to their cultural context. This paper discusses the use of rapid assessments to identify cultural and ethical issues arising when explaining research in studies in The Gambia and Ethiopia. The assessments provided insights into appropriate ways of providing information to minimize the risk of stigmatizing vulnerable research populations; research participants' views about the most important information to provide about research and their understandings of research; and perceived constraints upon reaching voluntary decisions about participation. These insights demonstrate that rapid assessments are a relatively quick and inexpensive intervention that can provide valuable information to assist in the tailoring of information provision and consent processes to research context while maintaining and enhancing participants' fundamental protections

High-throughput discovery of novel developmental phenotypes.

Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In addition, we show that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts

High-throughput discovery of novel developmental phenotypes.

Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In addition, we show that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts

Additional file 18 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 18: Table S10. Lambda GC values across minor allele frequency bins for sex-specific meta-analyses

Additional file 8 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 8: Table S6. Association of lipid index variants with CAD, T2D and NAFLD

Additional file 22 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 22: Table S14. Test for difference in effects for index variants from sex-stratified meta-analysis

Additional file 2 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 2: Table S2. Association results for the multi-ancestry index SNPs with the gene prioritization

Additional file 27 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 27: Table S17. Sex-stratified effect sizes in UK Biobank considering all individuals or only those not on cholesterol lowering medications

Additional file 12 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 12: Table S8. PheWAS UKB-MVP meta-analysis results for each lipid PGS