Technology

It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene. The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches. ...

Single‐cell RNA‐seq has enabled gene expression to be studied at an unprecedented resolution. The promise of this technology is attracting a growing user base for single‐cell analysis methods...

Investigators at Rutgers Cancer Institute of New Jersey have developed a computational method that uncovers clinically relevant gene expression patterns in large cohorts of breast cancer patients. This method, which is applicable to the analysis of all cancers...

A team led by researchers at the National Heart, Lung, and Blood Institute has assembled the most comprehensive long non-coding RNA knowledgebase (lncRNAKB) by methodically integrating widely used lncRNAs resources. It presents the largest annotation...

Challenges involved in the management of thyroid nodules include: Differentiating benign from malignant thyroid nodules when cytopathology results are indeterminate; determining the extent of initial thyroid surgery needed; and identifying targeted treatments for patients with thyroid cancers that do not ...

Recent technological advances enable genomics of individual cells, the building blocks of all living organisms. Single cell data characteristics differ from those of bulk data, which led to a plethora of new analytical strategies. However, solutions are only useful for ...

Single-cell RNA sequencing (scRNA-seq) enables the high-throughput quantification of transcriptional profiles in single cells. In contrast to bulk RNA-seq, additional preprocessing steps such as cell barcode identification or unique molecular identifier (UMI) deconvolution are necessary for preprocessing of data from ...

Researchers at the Mount Sinai Health System have created an automated script that takes your raw files from cell ranger and creates an integrated clustered Seurat object that can be used for visualization and downstream analysis. The clustering pipeline available ...

The blood and immune system are characterised by utmost diversity in its cellular components. This heterogeneity can solely be resolved with the application of single-cell technologies that enable precise...

Sometimes, analyzing our DNA sequences isn’t quite enough. RNA-seq is a next-generation sequencing (NGS)-based technique that looks at the RNA transcripts produced from our DNA, allowing us to...