Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants

BACKGROUND: Next-generation sequencing (NGS) is an efficient tool used for identifying pathogenic variants that cause Mendelian disorders. However, the lack of bioinformatics training of researchers makes the interpretation of identified variants a challenge in terms of precision and efficiency. In...

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Detalles Bibliográficos
Autores principales: Han, Qingmei, Yang, Ying, Wu, Shengyang, Liao, Yingchun, Zhang, Shuang, Liang, Hongbin, Cram, David S., Zhang, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173893/
https://www.ncbi.nlm.nih.gov/pubmed/34082700
http://dx.doi.org/10.1186/s12864-021-07728-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173893/
https://www.ncbi.nlm.nih.gov/pubmed/34082700
http://dx.doi.org/10.1186/s12864-021-07728-6

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