bamSliceR: cross-cohort variant and allelic bias analysis for rare variants and rare diseases

Rare diseases and conditions create unique challenges for genetic epidemiologists precisely because cases and samples are scarce. In recent years, whole-genome and whole-transcriptome sequencing (WGS/WTS) have eased the study of rare genetic variants. Paired WGS and WTS data are ideal, but logistica...

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Detalles Bibliográficos
Autores principales: Huang, Yizhou Peter, Harmon, Lauren, Gardner, Eve, Ma, Xiaotu, Harsh, Josiah, Xue, Zhaoyu, Wen, Hong, Ramos, Marcel, Davis, Sean, Triche, Timothy J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516001/
https://www.ncbi.nlm.nih.gov/pubmed/37745420
http://dx.doi.org/10.1101/2023.09.15.558026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516001/
https://www.ncbi.nlm.nih.gov/pubmed/37745420
http://dx.doi.org/10.1101/2023.09.15.558026

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