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Peripheral Blood Mononuclear Cells Predict Therapeutic Efficacy of Immunotherapy in NSCLC

In lung cancer immunotherapy, biomarkers to guide clinical decisions are limited. We now explore whether the detailed immunophenotyping of circulating peripheral blood mononuclear cells (PBMCs) can predict the efficacy of anti-PD-1 immunotherapy in …

APPRIS: selecting functionally important isoforms

APPRIS (https://appris.bioinfo.cnio.es) is a well-established database housing annotations for protein isoforms for a range of species. APPRIS selects principal isoforms based on protein structure and function features and on cross-species …

The clinical importance of tandem exon duplication-derived substitutions

Most coding genes in the human genome are annotated with multiple alternative transcripts. However, clear evidence for the functional relevance of the protein isoforms produced by these alternative transcripts is often hard to find. Alternative …

Assessing the functional relevance of splice isoforms

Alternative splicing of messenger RNA can generate an array of mature transcripts, but it is not clear how many go on to produce functionally relevant protein isoforms. There is only limited evidence for alternative proteins in proteomics analyses …

APPRIS principal isoforms and MANE Select transcripts in clinical variant interpretation

Most coding genes are able to generate multiple alternatively spliced transcripts. Determining which of these transcript variants produces the main protein isoform, and which splice variants are functionally important, is crucial in comparative …

GENCODE 2021

The GENCODE project annotates human and mouse genes and transcripts supported by experimental data with high accuracy, providing a foundational resource that supports genome biology and clinical genomics. GENCODE annotation processes make use of …

An analysis of tissue-specific alternative splicing at the protein level

The role of alternative splicing is one of the great unanswered questions in cellular biology. There is strong evidence for alternative splicing at the transcript level, and transcriptomics experiments show that many splice events are tissue …

Few SINEs of life: Alu elements have little evidence for biological relevance despite elevated translation

Abstract. Transposable elements colonize genomes and with time may end up being incorporated into functional regions. SINE Alu elements, which appeared in the

GENCODE reference annotation for the human and mouse genomes

Abstract. The accurate identification and description of the genes in the human and mouse genomes is a fundamental requirement for high quality analysis of dat