Veridical – Validation of predicted mRNA splicing mutations using high-throughput transcriptome data

March 7, 2014 1 Comment 8,673 Views

Interpretation of variants present in complete genomes or exomes reveals numerous sequence changes, only a fraction of which are likely to be pathogenic. Mutations have been traditionally inferred from allele frequencies and inheritance patterns in such data. Variants predicted to ...

Next Generation Sequencing Conference Highlights: Exomes, Genomes & Transcriptomes In Clinical Diagnostics

February 26, 2014 1 Comment 5,031 Views

bioteXcel’s third Next Generation Sequencing event, entitled Exomes, Genomes & Transcriptomes In Clinical Diagnostics (NGS 2014 Dundee) will include talks and workshops devoted to the advances in NGS applications important to human disease. It will take place on 7th & ...

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Tag Archives: Exomes

Veridical – Validation of predicted mRNA splicing mutations using high-throughput transcriptome data

Next Generation Sequencing Conference Highlights: Exomes, Genomes & Transcriptomes In Clinical Diagnostics

spSeudoMap – cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data

SoCube – an innovative end-to-end doublet detection algorithm for analyzing scRNA-seq data

Quantabio adds powerful bead booster chemistry to ultra-fast sparQ RNA-Seq HMR kit

SiT – spatial isoform transcriptomics

Analysis of single-cell rna-seq data

AllenDigger – spatial expression data visualization, spatial heterogeneity delineation, and single-cell registration based on the Allen Brain Atlas

New research identifies an inaccuracy in the single cell GENCODE gene model