770 (median 695) for indels (Supplementary Table1). The average burden of all three mutation types differed between the 11 countries (Pvalue < 2 × 10−23,Pvalue < 2 × 10−14andPvalue <
and 29,947 non-silent somatic mutations (Supplementary Data1). The non-silent mutations consisted of 19,838 missense mutations (66%), 3152 nonsense mutations (11%), 15 stop losses (0.05%), 541 splice site mutations (2%), 6203 frameshift indels (21%), and 194 in-frame indels (0.7%, S...
and is therefore a preferred target to knock-out the expression of STIM1 proteins. The strategy depicted in Fig.3a was intended to generate in-frame indels within the target site in order to trigger translational frame shifting. After selecting puromycin-resistant clones, the screening of genomic...
Coding variants including missense, nonsense, splice-site, and frameshift mutations or in-frame indels were catalogued. Known polymorphisms were removed after correlation with the National Center for Biotechnology Information Single Nucleotide Polymorphism Database and 1000 genomes. Final mutation calls were...
Recent resequencing projects report that stop-gains and frameshifts are collectively prevalent in humans and could be responsible for some of the inter-individual variability in innate immune response. Current computational approaches evaluating loss-of-function in genes carrying these variants rely on ...
frame of mRNA by introducing premature stop codons (PSC). These indels are created when the double-strand break generated by the Cas9 nuclease is repaired by non-homologous end joining (NHEJ) mechanisms. Under this experimental design, the assumption is that these ...
(Fig.2). Such feature can be utilized to disrupt functional elements of the genome to manipulate gene functions. For example, introducing indels into gene coding regions can change the codon or even shift the reading frame, thereby disrupting gene function [39,43,114,115]. Indels can also ...
Mutagenic NHEJ of this DSB could generate indels inducing “3n + 1”-bp frame-shift, thus reframing GFP to the correct frame and making the cell GFP+. GFP+ cells could be measured by flow cytometry. Therefore, the percentages of GFP+ cells at 72 h post-transfection could reflect the...
(including stop-gained, frameshift, splice acceptor or donor and initiator codon variants,N = 9,658),P ≤ 4.4 × 10−8for missense, splice-region variants and in-frame-indels (N = 180,803),P ≤ 4.0 × 10−9for low-impact variants (including synonymous, ...
(33%) and potentially less damaging missense and small in-frame indels (25%) were also common. In contrast, only a single deletion was found among the MT-H tumors, with 70% of detected mutations truncating PTEN, and the remaining 30% missense/indels. These patterns reflect the well-...