NMF determines the signature profiles and contributions of each signature to each cancer genome as part of its factorization of the input matrix of mutation spectra. However, with many signatures and/or heterogeneous mutation burdens across samples, the mutations observed in a particular sample can ...
Since most cases are caused by a mutation (突变) in a single gene, LHON is a good2for gene therapy, a form of genetic engineering which aims to replace the defective gene with a working one. With that in mind, Dr Yu-Wai-Man, an ophthalmologist at Cambridge University, and his colleagu...
such as Bxb1 and PhiC31, have been characterized to date, with limited efficiency as tools for DNA integration in human cells. In this study, we developed a computational approach to identify thousands of LSRs and
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The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelopeCardiac conduction disease... RA Al-Saaidi,TB Rasmussen,RID Birkler,... - 《European Journal of Heart Failure》 被引量: 0发表: 2018年 Expression of an LMNA-N195K vari...
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Electronic Patient-Reported Outcome System Implementation in Outpatient Cardiovascular CareA Randomized Clinical Trial Shuhei Yamashita, MD; Yoshinori Katsumata, MD, PhD; Shun Kohsaka, MD; et al. This randomized clinical trial evaluates changes in patient satisfaction, quality of information provided by...
Mucus is a slippery liquid that has vital functions in our body. An excessive amount of mucus or a change in its appearance may signify a health problem.
Some viruses, however, do cause overt damage to the host, either in isolated cases or as a reaction that commonly occurs after infection. The outcome is influenced by properties of the infecting virus, the circumstances of infection and several factors controlled by the host. In this Review, ...
Discretization by clonality (monoclonal vs. polyclonal) only stratified patients by outcome in the SomaticSniper-TITAN-PhyloWGS pipeline (p = 0.004, log-rank test; Supplementary Fig. 10A), but not any other (all p > 0.05, log-rank test; Supplementary Fig. 10B–P). The unified ...