Gabriela Salinas presented a range of single-cell omics approaches recently implemented at the NGS Integrative Genomics Core unit at the University Medical Centre, Gottingen. The presentation highlighted the rapid evolution in omics technologies, which had dramatically changed the investigation of human diseases, offering unprecedented insights into the molecular foundations of complex diseases such as cancer, heart disorders, and neurodegenerative diseases.
Salinas explained the need for integration of omics data, including genomics, transcriptomics, epigenomics, and proteomics, which allowed researchers to explore disease mechanisms with greater precision. This integration, particularly at the single-cell resolution, promoted the discovery of new biomarkers and improved molecular phenotyping accuracy, ultimately leading to better patient outcomes.
One of the key innovations discussed was the development of single-cell DNA sequencing using Shasta chemistry. This method was chosen for its quality in the amplification step of single cells, which was critical for investigating copy number variants and small structural variants at the single-cell level. The findings were validated through parallel whole genome sequencing using both short and long read platforms.
Salinas also highlighted advancements in single-cell RNA sequencing, particularly the performance of full-length sequencing, which allowed for variant calling and differential gene expression analysis. The Shasta instrument facilitated quality checks on isolated cells, ensuring the selection of viable cells for sequencing. This was crucial for accurate results, especially when dealing with unusual cells in morphology and sizing.
The presentation included studies on long non-coding RNAs in heart and brain tissues, demonstrating the sensitivity of the approach in detecting tissue-specific RNA expressions. Additionally, the significance of intronic variants in pancreatic cancer was explored, revealing their potential impact on alternative splicing and protein expression.
