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Abujudeh, S.

Publications and source records attributed to Abujudeh, S..

2 recordsLinked to original sources

funkea: Functional Enrichment Analysis in Python

AO_SCPLOWBSTRACTC_SCPLOWAdvancements in Genome-wide association studies (GWAS) have led to the discovery of numerous genetic variants potentially linked to various traits, necessitating effective methods to interpret and summarise these vast data sets. We introduce funkea, a Python package designed to fill this need by providing functional enrichment analysis methods. This tool encompasses popular enrichment approaches under a unified interface and leverages Spark for virtually limitless scale. This allows researchers to conduct pathway, cell-type, and tissue enrichment analysis across diverse annotation datasets. Ultimately, the funkea Python package delivers a highly flexible and scalable solution for functional enrichment analysis in the context of modern genetics workflows. https://github.com/BenevolentAI/funkea

bioinformatics↗

Low-cost and clinically applicable copy number profiling using repeat DNA

Large-scale cancer genome studies suggest that tumors are driven by somatic copy number alterations (SCNAs) or single-nucleotide variants (SNVs). Due to the low-cost, the clinical use of genomics assays is biased towards targeted gene panels, which identify SNVs. There is a need for a comparably low-cost and simple assay for high-resolution SCNA profiling. Here we present our method, conliga, which infers SCNA profiles from a low-cost and simple assay.

genomics↗