Work

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Year: 2021

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2021.09.014

Authors: Daniel Danis, Julius O.B. Jacobsen, Leigh C. Carmody, Michael A. Gargano, Julie A. McMurry, Ayushi Hegde, Melissa A. Haendel, Giorgio Valentini, Damian Smedley, Peter N. Robinson

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: bronze

Funders: National Institutes of Health, National Human Genome Research Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: The Monarch Initiative: Linking Diseases to Model Organism Resources, The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for Genomics, Increasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser

OpenAlex ID: W3215477343

FWCI: 1.131

Cites:

Cited by: 17

Related to: 10