A new data analysis method identifies splicing variants associated with disease

Researchers from Tokyo Medical and Dental University (TMDU) have found that integrating and selectively analyzing spliced variant data can help identify genetic variants associated with complex human diseases

In the era of big data, access to a lot of information is the easiest part; Knowing how to take advantage of it is another matter entirely

In a study published in August, natural communications researchers from Tokyo Medical and Dentistry University (TMDU) revealed that analyzing the coding sequences of gene splicing variants at disease-related loci could help reveal the genetic causes

Our genetic variants can lead to complex diseases, but it is difficult to tell how a single genetic variant causes disease

Kensuke Yamaguchi, lead author of the study, explains: "There are many existing methods to identify and analyze genetic variants

To overcome these shortcomings, the researchers developed a set of two analyses that more fully captured the complexity of splicing variants and their relationship to human disease: the first integrated subtypes with the same coding sequence to detect resulting protein structural changes, and the second examined the effects

"The results show that our approach is robust and effective," said

In addition, they showed that genes with splicing variants associated with disease can be identified

Taken together, these findings highlight the role