DESeq2 is a powerful and widely-used R package that identifies differentially expressed genes (DEGs) from RNA-seq data. Whether you're comparing treated vs untreated samples, disease vs healthy conditions, or wild-type vs mutant strains, DESeq2...
Prioritizing missense variants for further experimental investigation is a key challenge in current sequencing studies for exploring complex and Mendelian diseases. A large number of in silico tools have been employed for the task of...
github.com - DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.
DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation...
github.com - MALVA is able to genotype multi-allelic SNPs and indels without mapping reads
MALVA calls correctly more indels than the most widely adopted genotyping pipelines
Mapping-free approaches are as accurate as alignment-based ones, while being...
mrfast.sourceforge.net - mrFAST is a read mapper that is designed to map short reads to reference genome with a special emphasis on the discovery of structural variation and segmental duplications. mrFAST maps short reads with respect to user defined error threshold,...
github.com - A flexible framework for rapid genome analysis and interpretation
C Chiang, R M Layer, G G Faust, M R Lindberg, D B Rose, E P Garrison, G T Marth, A R Quinlan, and I M Hall. SpeedSeq: ultra-fast personal genome analysis and interpretation. Nat Meth...
fujiwara/perl-queue-q4pg-lite - simple message queue using PostgreSQL.
formbuilder/formbuilder - Perl CGI::FormBuilder module for generating, validating, and processing HTML forms
fastly/fastly-perl - Fastly perl...