ESPE Yearbook of Paediatric Endocrinology

Brief Summary:Using a new method, long DNA fragments from single human T-cells were sequenced after refined automated single-cell processing and droplet-based whole-genome amplification using PacBio HiFi sequencing. Compared to short-read technologies, the new long-read method markedly improved analyses of genetic variants, especially complex structural variations and variants in repeat elements; it also allowed de novo assembly of parts of the single-cell genome.<p class=...