Advances in sequencing technologies have enabled the comparison of high-quality
genomes of diverse primate species, revealing vast amounts of divergence due to structural …

Highlights•T2T genomes are transforming our understanding of genome architecture and
evolution.•Population scale long read sequencing is identifying novel selective …

Diverse sets of complete human genomes are required to construct a pangenome reference
and to understand the extent of complex structural variation. Here, we sequence 65 diverse …

Copy-number variable (CNV) genes are important in evolution and disease, yet sequence
variation in CNV genes is a blindspot for large-scale studies. We present a method, ctyper …

Genetic analysis of copy number variations (CNVs), especially in complex regions, is
challenging due to reference bias and ambiguous alignment of Next-Generation …

Genes within the secretory calcium-binding phosphoprotein (SCPP) family evolved in
conjunction with major evolutionary milestones: the formation of a calcified skeleton in …

Genomic drivers of human-specific neurological traits remain largely undiscovered.
Duplicated genes expanded uniquely in the human lineage likely contributed to brain …

Amyláza je enzym produkovaný u člověka v pankreatu a slinných žlázách, jehož funkcí je
štěpení škrobu. Geny pro slinný izoenzym (AMY1) nacházející se na chromozomu 1p21. 1 …