With the growing use of WGS in many labs, we sought to identify which mutations are gained by extending to this form of data. One major observation from our pipeline highlighted that some variants in exome regions were not well covered by WES (Fig. 1a Step 3). Using this mutation set ...
Sarcoglycanopathy is the most frequent form of autosomal recessive limb-girdle muscular dystrophies caused by mutations inSGCBgene encoding beta-sarcoglycan proteins. In this study, we describe a shared, common haplotype co-segregating in 14 sarcoglycanopathy cases from 13 unrelated families from ...
TrackSig identifies changepoints in the timeline where there are discernible differences in the activity of mutations in the time points before and after the changepoints. Specifically, the changepoints partition the timeline into segments of mutations with approximately constant activities. TrackSig fits...
We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma. Blisters and erosions in AEI are ...
Due to its stability, DNA is particularly easy to recover from fresh and historical tumour samples; furthermore, because mutations accumulate in DNA, they form a historic record of tumour evolution unaffected by the local, metastatic environment. Here we use deep-learning techniques to explore ...
The G12V mutated form of four RAS isoforms transfected in COS-1 cells observed the following hierarchy of RAF1 activation: KRAS4B > KRAS4A >>> NRAS > HRAS [52]. While in the NSCLC cell line, KRASG12D mutated cells followed the PI3K and MEK pathway compared to the KRASG12C and wild...