Purpose Current clinical genomics assays primarily utilize short-read sequencing (SRS),
but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read …

Rare genetic variants are abundant in humans and are expected to contribute to individual
disease risk 1, 2, 3, 4. While genetic association studies have successfully identified common …

Purpose.— Clinical use of analytical tests to assess genomic variants in circulating tumor
DNA (ctDNA) is increasing. This joint review from the American Society of Clinical Oncology …

It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene 1 . The current molecular diagnostic rate is …

We assessed the frequency and clinicopathologic significance of 19 genes currently identified
as significantly mutated in myeloid neoplasms, RUNX1, ASXL1, TET2, CEBPA, IDH1, …

Circulating tumour DNA (ctDNA) assays conducted on plasma are rapidly developing a
strong evidence base for use in patients with cancer. The European Society for Medical …

The complex repertoire of immune receptors generated by B and T cells enables recognition
of diverse threats to the host organism. Here, we show that massively parallel DNA …

Importance Whole-genome sequencing (WGS) is increasingly applied in clinical medicine
and is expected to uncover clinically significant findings regardless of sequencing indication. …

We direct your readers' attention to the principles and guidelines (Supplementary Guidelines)
developed by the Next-generation Sequencing: Standardization of Clinical Testing (Nex-…

Dysregulated Janus kinase–signal transducer and activator of transcription (JAK-STAT)
signaling due to activation of tyrosine kinases is a common feature of myeloid malignancies. …