Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene

Lee, W., de Prisco, N., & Gennarino, V. A. (2022). Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene. STAR Protocols, 3(1), 101150. https://doi.org/10.1016/j.xpro.2022.101150
Authors:
Winston Lee
Nicola de Prisco
Vincenzo A. Gennarino
Affiliated Authors:
Winston Lee
Nicola de Prisco
Vincenzo A. Gennarino
Columbia Affiliation:
Subjects:
Genes, Dominant (MeSH)
Genetic Diseases, Inborn (MeSH)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Genomic Studies and Association Analyses (OpenAlex Topic)
Author Keywords:
clinical protocol
genetics
health sciences
sequence analysis
sequencing
elink
Publication Type:
Article
Unique ID:
10.1016/j.xpro.2022.101150
PMID:
35146449
DOI:
10.1016/j.xpro.2022.101150
Journal:
STAR Protocols
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View Web of Science Record
View OpenAlex Record
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Record Created: