16p12.1 Deletion WGS bioinformatics pipelines

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.

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-08-22
DOI
https://doi.org/10.5281/zenodo.16928624
Primary Topic
Geochemistry and Geologic Mapping
Type
article
Field-Weighted Citation Impact
0.00
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article

16p12.1 Deletion WGS bioinformatics pipelines

Zenodo (CERN European Organization for Nuclear Research)
Geochemistry and Geologic Mapping
article

16p12.1 Deletion WGS bioinformatics pipelines

article en

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.

Zenodo (CERN European Organization for Nuclear Research)
Openalex Percentile: Top 65%
Geochemistry and Geologic Mapping
DOIOpen Access PDFOpenAlex
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16p12.1 Deletion WGS bioinformatics pipelines · Zenodo (CERN European Organization for Nuclear Research) (2025) | TGRS Research Map | TGRS