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

ABSTRACT:

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 addition, the non-standardized phenotypic description of human diseases also makes it difficult to establish an integrated analysis pathway for variant annotation and interpretation. Solutions to these bottlenecks are urgently needed.

Results

We develop a tool named "Cruxome" to automatically annotate and interpret single nucleotide variants (SNVs) and small insertions and deletions (InDels). Our approach greatly simplifies the current burdensome task of clinical geneticists and sc

SUBMITTER: Han Q 

PROVIDER: S-EPMC8173893 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature