Tag Archives: gencode

Gene annotations, such as those in GENCODE, are derived primarily from alignments of spliced cDNA sequences and protein sequences. The impact of RNA-seq data on annotation has been confined to major projects like ENCODE and Illumina Body Map 2.0. Researchers ...

Short-read sequencing has enabled the de novo assembly of several individual human genomes, but with inherent limitations in characterizing repeat elements. Now, an international team led by researchers at USC have sequenced a Chinese individual HX1 by single-molecule real-time (SMRT) ...

A vast amount of DNA variation is being identified by increasingly large-scale exome and genome sequencing projects. To be useful, variants require accurate functional annotation and a wide range of tools are available to this end. McCarthy et al recently ...

Scientists at the Pontifical Catholic University of Chile have uncovered the diversity of non-canonical splice sites at the human transcriptome using deep transcriptome profiling. They mapped a total of 3.7 billion human RNA-seq reads and developed a set of stringent ...