ARTICLE
|
doi:10.20944/preprints202106.0275.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
inherited retinal disease; VUS; functional analysis; minigene assay
Online: 9 June 2021 (23:01:36 CEST)
REVIEW
|
doi:10.20944/preprints201902.0090.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
BRCA1; variants of uncertain clinical significance; VUS; germline variants; hereditary breast and ovarian cancer; breast cancer; genetic testing, ovarian cancer; variant classification; clinical annotation
Online: 11 February 2019 (16:12:03 CET)
ARTICLE
|
doi:10.20944/preprints202007.0735.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Variant of Unknown Significance (VUS); Single-Nucleotide Variant (SNV); Variant Effect Prediction (VEP); Stacked Ensemble of Supervised Deep Learners (SESDL); Next Generation Sequencing (NGS); Alternative Allele Frequency (AAF).
Online: 31 July 2020 (06:13:53 CEST)