VarRNA – variant calling from RNA-Seq data
Understanding how genetic changes drive cancer is one of the biggest challenges in biomedical research.…
Browsing: SNP Detection
FLAIR2 – detecting haplotype-specific transcript variation in long reads
RNA sequencing (RNA-seq) has transformed our ability to study RNA, the molecule that plays a…
Digital RNA sequencing using unique molecular identifiers enables ultrasensitive RNA mutation analysis
Understanding genetic mutations is crucial for various applications, from diagnosing diseases to unraveling the complexities…
scSNV-seq – high-throughput phenotyping of single nucleotide variants by coupled single-cell genotyping and transcriptomics
CRISPR screens with single-cell transcriptomic readouts are a valuable tool to understand the effect of…
Novel algorithm able to detect mutations in single-cell sequencing data sets
Being able to characterise somatic mutations at single-cell resolution is essential for understanding cancer evolution…
Transformation of alignment files improves performance of variant callers for long-read RNA sequencing data
Long-read RNA sequencing (lrRNA-seq) produces detailed information about full-length transcripts, including novel and sample-specific isoforms.…
scAllele – A versatile tool for the detection and analysis of variants in scRNA-seq
Single-cell RNA sequencing (scRNA-seq) data contain rich information at the gene, transcript, and nucleotide levels.…