The maturation of high-throughput short-read sequencing technology over the past two
decades has shaped the way genomes are studied. Recently, single-molecule, long-read …

Gains and losses of large segments of genomic DNA, known as copy number variants
(CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may …

The recent development of high-throughput sequencing platforms provided impressive
insights into the field of human genetics and contributed to considering structural variants …

In the “precision oncology” era the characterization of tumor genetic features is a pivotal step
in cancer patients' management. Liquid biopsy approaches, such as analysis of cell-free …

Structural variants (SVs) are genomic rearrangements that involve at least 50 nucleotides
and are known to have a serious impact on human health. While prior short-read …

Retinoblastoma (RB) is the most common intraocular malignancy in childhood. The causal
variants in RB are mostly characterized by previously used short-read sequencing (SRS) …

Copy number alterations (CNAs) comprise deletions or amplifications of fragments of
genomic material that are particularly common in cancer and play a major contribution in its …

Adaptive sampling enables selection of individual DNA molecules from sequencing
libraries, a unique property of nanopore sequencing. Here we develop our adaptive …

The development of new sequencing platforms, technologies, and bioinformatics tools in the
past decade fostered key discoveries in human genomics. Among the most recent …

Long-read sequencing allows analyses of single nucleic-acid molecules and produces
sequences in the order of tens to hundreds kilobases. Its application to whole-genome …