Tumor‐Specific Transcripts Are Frequently Expressed in Hepatocellular Carcinoma With Clinical Implication and Potential Function
Sign Up to like & getrecommendations! Published in 2019 at "Hepatology"
DOI: 10.1002/hep.30805
Abstract: Hepatocellular carcinoma (HCC) is a highly lethal cancer and its underlying etiology remains understudied. The immense diversity and complexity of the cancer transcriptome hold the potential to yield tumor‐specific transcripts (TSTs). Here, we showed that… read more here.
Keywords: hepatocellular carcinoma; frequently expressed; hcc; tumor specific ... See more keywords
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1603
Abstract: BACKGROUND Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert syndrome… read more here.
Keywords: tissue specific; genetic variants; exon; cep120 cc2d2a ... See more keywords
IntAPT: integrated assembly of phenotype-specific transcripts from multiple RNA-seq profiles
Sign Up to like & getrecommendations! Published in 2021 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btaa852
Abstract: MOTIVATION High-throughput RNA sequencing has revolutionized the scope and depth of transcriptome analysis. Accurate reconstruction of a phenotype-specific transcriptome is challenging due to the noise and variability of RNA-seq data. This requires computational identification of… read more here.
Keywords: integrated assembly; assembly phenotype; phenotype specific; transcripts multiple ... See more keywords