Work

Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

Year: 2020

Type: article

Source: Genetics in Medicine

DOI: 10.1038/s41436-020-0780-y

Authors: Joseph K. Aicher, Paul Jewell, Jorge Vaquero-Garcia, Yoseph Barash, Elizabeth J. Bhoj

Institutions: Children's Hospital of Philadelphia, University of Pennsylvania

Language: English

Topic: RNA Research and Splicing

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Institute of General Medical Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Enhancing molecular diagnosis in children with multiple congenital anomalies using clinically focused splicing prediction algorithms, Methods for RNA splicing variations detection, quantification, visualization, and association from large heterogeneous datasets

OpenAlex ID: W3013484278

FWCI: 4.461

Cites: 41

Cited by: 94

Related to: 10