MuCor: mutation aggregation and correlation
نویسندگان
چکیده
MOTIVATION There are many tools for variant calling and effect prediction, but little to tie together large sample groups. Aggregating, sorting and summarizing variants and effects across a cohort is often done with ad hoc scripts that must be re-written for every new project. In response, we have written MuCor, a tool to gather variants from a variety of input formats (including multiple files per sample), perform database lookups and frequency calculations, and write many types of reports. In addition to use in large studies with numerous samples, MuCor can also be employed to directly compare variant calls from the same sample across two or more platforms, parameters or pipelines. A companion utility, DepthGauge, measures coverage at regions of interest to increase confidence in calls. AVAILABILITY AND IMPLEMENTATION Source code is freely available at https://github.com/blachlylab/mucor and a Docker image is available at https://hub.docker.com/r/blachlylab/mucor/ CONTACT [email protected] data: Supplementary data are available at Bioinformatics online.
منابع مشابه
Fourier transform infrared spectroscopy for the prediction of fatty acid profiles in Mucor fungi grown in media with different carbon sources
Fungal production of polyunsaturated fatty acids (PUFAs) is a highly potential approach in biotechnology. Currently the main focus is directed towards screening of hundreds strains in order to select of few potential ones. Thus, a reliable method for screening a high number of strains within a short period of time is needed. Here, we present a novel method for screening of PUFA-producing fungi ...
متن کاملTransformation of Mucor miehei results in plasmid deletion and phenotypic instability.
Mucor miehei transformants resistant to geneticin have been obtained by treatment of protoplasts with different plasmids and by Agrobacterium-mediated DNA transfer. All transformants exhibited a very unstable phenotype whose maintenance required continuous selective pressure. Molecular analysis of transformants showed that the plasmid DNA was extensively modified and maintained in very low amou...
متن کاملMutant Profilin1 Aggregation in Amyotrophic Lateral Sclerosis: An in Vivo Biochemical Analysis
Introduction: Profilin1 (PFN1) is a ubiquitously expressed protein known for its function as a regulator of actin polymerization and dynamics. A recent discovery linked mutant PFN1 to Amyotrophic Lateral Sclerosis (ALS), which is a fatal and progressive motor neuron disease. We have also demonstrated that Gly118Val mutation in PFN1 is a cause of ALS, and the formation of aggregates containing m...
متن کاملارزیابی میزان قندهای حاصل از تجزیه پکتین و پروتئینهای موثر در تجزیه پکتین توسط چند گونه قارچ Mucor
The present study was aimed to screen the pectinase activity from some genera of Mocur in laboratory conditions. Pectin was used as the only carbon source in a minimal culture medium. Tow days after inoculation released proteins and sugars were assayed with related reagents and repeated each 2 days up to 21th day. Statistical analysis showed significant variation in released sugars and released...
متن کاملBiotransformation of a cage-like diels-alder adduct and derivatives by Mucor ramosissimus samutsevitsch
The present study aimed to evaluate the ability for biotransformation of the Diels-Alder adduct tricyclo[6.2.1.0(2,7)]undeca-4,9-dien-3,6-dione (1) and two synthetic derivatives by the saprobe fungus Mucor ramosissimus Samutsevitsch. Products from oxidation, isomerization and, regioselective and enantioselective reduction were achieved.
متن کامل