Devi Priyanka Maripuri

1 Introduction Rubinstein Taybi syndrome (RTS, OMIM #180849, and OMIM #613684) is an autosomal dominant disorder characterized by a distinct facial gestalt (ptosis, epicanthus, down-slanting palpebral fissures, broad nasal bridge with a convex nasal ridge and low-hanging columella, microretrognathia), broad and radially deviated thumbs and great toes, genitourinary malformations, congenital heart disease, feeding difficulties, and global developmental delay with intellectual disability...

Abstract Despite the tremendous increase in omics data generated by modern sequencing technologies, their analysis can be tricky and often requires substantial expertise in bioinformatics. To address this concern, we have developed a user-friendly pipeline to analyze (cancer) genomic data that takes in raw sequencing data (FASTQ format) as input and outputs insightful statistics on the nature of the data.