Work

16p12.1 Deletion WGS bioinformatics pipelines

Year: 2025

Type: article

Abstract: Scripts for: Jensen, M., Smolen, C., Tyryshkina, A., Pizzo, L., Banerjee, D., Oetjens, M., Shimelis, H., Taylor, C. M., Pounraja, V. K., Song, H., Rohan, L., Huber, E., El Khattabi, L., van de Laar, I., Tadros, R., Bezzina, C., van Slegtenhorst, M., Kammeraad, J., Prontera, P., … Girirajan, S. (2024). Genetic modifiers and ascertainment drive variable expressivity of complex disorders. This repository contains scripts for calling genetic variants and performing analyses in the above manuscript.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.16928623

Author: Smolen, Corrine

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: green

OpenAlex ID: W7077894713

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