Patients who have had a VUS through NGS that is predicted to cause abnormal splicing. Patients who want to prepare for prenatal/pre-implantation diagnosis and for predictive testing for individuals at ...

Transcribe, splice, and everything’s nice—at least in healthy people. Scientists are finding that abnormal splicing, and genetic variants that cause it, may kickstart some neurodegenerative diseases.

Johns Hopkins researchers have developed a powerful new AI tool called Splam that can identify where splicing occurs in genes—an advance that could help scientists analyze genetic data with greater ...

Germline non-BRCA1/2 mutations and clinico-radio-pathologic features of early-onset breast cancer patients in Thailand. Genetic counseling (GC) in the era of next generation sequencing (NGS) to ...

RNA splicing is a cellular process that is critical for gene expression. After genes are copied from DNA into messenger RNA, portions of the RNA that don't code for proteins, called introns, are cut ...

Cancers driven by hiccups in RNA processing can’t hide from our immune system, according to new work published today in Cell. A cross-institutional team Fred Hutch Cancer Center and Memorial Sloan ...

The cover of Aging-US Volume 17, Issue 12, features Figure 5 from the research paper, titled "A combination of differential expression and network connectivity analyses identifies a common set of RNA ...

In an important new study, Chinese researchers have discovered the previously unrecognized role of alternative splicing of the DOC2A gene in schizophrenia. The research was conducted by scientists led ...

Biologists have discovered a new type of RNA-splicing regulation that helps to determine which protein-coding exons will be included in messenger RNA transcripts. RNA splicing is a cellular process ...