Cargando…
Evaluation of Liftover Tools for the Conversion of Genome Reference Consortium Human Build 37 to Build 38 Using ClinVar Variants
Although Genome Reference Consortium Human Build 38 (GRCh38) was released with improvement over GRCh37, it has not been widely adopted. Several liftover tools have been developed as a convenient approach for GRCh38 implementation. This study aimed to investigate the accuracy of liftover tools for ge...
Autores principales: | Park, Kyoung-Jin, Yoon, Young Ahn, Park, Jong-Ho |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606611/ https://www.ncbi.nlm.nih.gov/pubmed/37895222 http://dx.doi.org/10.3390/genes14101875 |
Ejemplares similares
-
ClinVar data parsing
por: Zhang, Xiaolei, et al.
Publicado: (2017) -
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
por: Pérez-Palma, Eduardo, et al.
Publicado: (2019) -
ClinVar: public archive of interpretations of clinically relevant variants
por: Landrum, Melissa J., et al.
Publicado: (2016) -
ClinVar: improving access to variant interpretations and supporting evidence
por: Landrum, Melissa J, et al.
Publicado: (2018) -
ClinVar Is a Critical Resource to Advance Variant Interpretation
por: Rehm, Heidi L., et al.
Publicado: (2017)