ExonImpact: Prioritizing Pathogenic Alternative Splicing Events
نویسندگان
چکیده
منابع مشابه
Prioritizing single-nucleotide variations that potentially regulate alternative splicing
Recent evidence suggests that many complex diseases are caused by genetic variations that play regulatory roles in controlling gene expression. Most genetic studies focus on nonsynonymous variations that can alter the amino acid composition of a protein and are therefore believed to have the highest impact on phenotype. Synonymous variations, however, can also play important roles in disease pa...
متن کاملComplete Alternative Splicing Events Are Bubbles in Splicing Graphs
Eukaryotic splicing structures are known to involve a high degree of alternative forms derived from a premature transcript by alternative splicing (AS). With the advent of new sequencing technologies, evidence for new splice forms becomes increasingly available-bit by bit revealing that the true splicing diversity of "AS events" often comprises more than two alternatives and therefore cannot be...
متن کاملRole of Aberrant Alternative Splicing in Cancer
Alternative splicing can alter genome sequence and as a consequence, many genes change to oncogenes. This event can also affect protein function and diversity. The growing number of study elucidate the pathological influence of impaired alternative splicing events on numerous disease including cancer. Here, we would like to highlight the significant role of alternative splicing in cancer biolog...
متن کاملIdentifying and Validating Alternative Splicing Events
GeneChip Exon Arrays are powerful tools for the discovery and study of mRNA transcript diversity. For the first time, researchers will obtain approximately 1.4 million data points from each sample in a single experiment. This increased data density also poses a number of data analysis challenges, including management of a higher number of potential false positives from the much larger data set....
متن کاملImpacts of Alternative Splicing Events on the Differentiation of Adipocytes
Alternative splicing was found to be a common phenomenon after the advent of whole transcriptome analyses or next generation sequencing. Over 90% of human genes were demonstrated to undergo at least one alternative splicing event. Alternative splicing is an effective mechanism to spatiotemporally expand protein diversity, which influences the cell fate and tissue development. The first focus of...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Mutation
سال: 2016
ISSN: 1059-7794
DOI: 10.1002/humu.23111