Tag: LoF

Natural variants of human SARM1 cause both intrinsic and dominant loss-of-function influencing axon survival

Selection of naturally occurring human SARM1 variants with potential for LoF We hypothesised that naturally occurring SARM1 coding variation that confers LoF exists in the general human population. Previous studies have shown that disruption of the SAM multimerization domains or catalytic TIR domain of SARM1 is more likely to cause…

Continue Reading Natural variants of human SARM1 cause both intrinsic and dominant loss-of-function influencing axon survival

A Guide for Optimizing Arrayed CRISPR Screens

Loss-of-function (LOF) screens measure the phenotypic effects of gene disruptions, which helps researchers identify and validate gene targets for drug discovery. CRISPR-Cas9 technology has enabled great advances in LOF screening. While researchers typically use pooled CRISPR screens to assess fitness phenotypes, arrayed screens are amenable to a variety of functional…

Continue Reading A Guide for Optimizing Arrayed CRISPR Screens

Loss of gene linked to differences in brain size

The work, from the Wellcome Sanger Institute, the French Institute of Health and Medical Research (Inserm), the University of Bourgogne Franche-Comté, and Beijing Genomics Institute (BGI)-Shenzhen, found that when there was a loss-of-function mutation in the mouse gene Magee2, it led to adult male mice having slightly enlarged brains. When…

Continue Reading Loss of gene linked to differences in brain size

Inquiry related to vcf file and formatting

Hello everyone, I am trying to run predixcan software. But its showing error as segmentation fault implying that there is something wrong with my vcf files. I am sharing the header of vcf file. ##fileformat=VCFv4.1 ##INFO=<ID=LDAF,Number=1,Type=Float,Description=”MLE Allele Frequency Accounting for LD”> ##INFO=<ID=AVGPOST,Number=1,Type=Float,Description=”Average posterior probability from MaCH/Thunder”> ##INFO=<ID=RSQ,Number=1,Type=Float,Description=”Genotype imputation quality from…

Continue Reading Inquiry related to vcf file and formatting