Mutations in some of the genes highlighted are also known to be associated with severe monogenic syndromes - conditions caused by a single genetic mutations - characterised by compromisedmuscle function. This demonstrates thatgenetic variationin genes which cause serious muscular conditions may also influe...
"Family studies show that mid-digital hair is not a simple genetic trait," wrote Dr. John H. McDonald. "It may be that the genetics of the trait are more complicated, or it may be that there is an environmental influence (such as hand work wearing away the hairs)." Photo: ierdnall...
The second is unlikely, because Sanford has shown that natural selection cannot maintain the integrity of human DNA for so long.10 The third suggestion is also unlikely because there is no evidence in nature that large amounts of genetic material can be transferred between humans and chimpanzees....
Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016). CAS PubMed PubMed Central Google Scholar Pardiñas, A. F. et al. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nat. Genet...
Animal models are a powerful surrogate for the study of human development and disease. Genetic screens have produced large mutation resources in the model organismsCaenorhabditis elegans1,2,3,Drosophila melanogaster4,5andDanio rerio6. The creation of a collection of mutants covering every gene of the...
Genome-wide functional screening using the CRISPR-Cas9 system is a powerful tool to uncover tumor-specific and common genetic dependencies across cancer cell lines. Current CRISPR-Cas9 knockout libraries, however, primarily target protein-coding genes. This limits functional genomics-based investigations ...
Summarizing polygenic risks for complex diseases in a clinical whole-genome report. Disease-causing mutations and pharmacogenomic variants are of primary interest for clinical whole-genome sequencing. However, estimating genetic liability ... S Won,Kong,In-Hee,... - 《Genetics in Medicine Official Jo...
Genome-wide functional screening using the CRISPR-Cas9 system is a powerful tool to uncover tumor-specific and common genetic dependencies across cancer cell lines. Current CRISPR-Cas9 knockout libraries, however, primarily target protein-coding genes. T
(10.7%) among 1,054 unrelated individuals in the cohort who carried heterozygous rare variants likely influencing the function of 17 genes. Thirteen of the 17 genes are associated with inborn errors of metabolism or other pediatric genetic conditions. This study extends the map of loci influencing...
Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim/Heidelberg University, Mannheim, Germany Josef Frank, Maren Lang, Marcella Rietschel & Jana Strohmaier Centre for Integrated Register-based Research, CIRRAU, Aarhus University, Aarhus, Denmark ...