The assay for transposase-accessible chromatin using sequencing (ATAC-seq) provides a
simple and scalable way to detect the unique chromatin landscape associated with a cell …

Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …

Abstract Pediatric Coronavirus Disease 2019 (pCOVID-19) is rarely severe; however, a
minority of children infected with severe acute respiratory syndrome coronavirus 2 (SARS …

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Bisulfite sequencing detects 5mC and 5hmC at single-base resolution. However, bisulfite
treatment damages DNA, which results in fragmentation, DNA loss, and biased sequencing …

Circulating tumour DNA (ctDNA) in blood plasma is an emerging tool for clinical cancer
genotyping and longitudinal disease monitoring. However, owing to past emphasis on …

Glioblastoma multiforme (GBM) is an aggressive brain tumor for which current
immunotherapy approaches have been unsuccessful. Here, we explore the mechanisms …

While the potential of patient-derived organoids (PDOs) to predict patients' responses to anti-
cancer treatments has been well recognized, the lengthy time and the low efficiency in …

The underrepresentation of non-Europeans in human genetic studies so far has limited the
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …

The repetitive nature and complexity of some medically relevant genes poses a challenge
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …