Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

Abstract The Human Gene Mutation Database (HGMD®) is a comprehensive collection of
germline mutations in nuclear genes that underlie, or are associated with, human inherited …

Nuclear compartments are prominent features of 3D chromatin organization, but sequencing
depth limitations have impeded investigation at ultra fine-scale. CTCF loops are generally …

Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …

Advances in genome assembly and phasing provide an opportunity to investigate the
diploid architecture of the human genome and reveal the full range of structural variation …

The high-throughput-next generation sequencing (HT-NGS) technologies are currently the
hottest topic in the field of human and animals genomics researches, which can produce …

Demand has never been greater for revolutionary technologies that deliver fast, inexpensive
and accurate genome information. This challenge has catalysed the development of next …

Genome sequencing of large numbers of individuals promises to advance the
understanding, treatment, and prevention of human diseases, among other applications. We …

Short-read sequencing has enabled the de novo assembly of several individual human
genomes, but with inherent limitations in characterizing repeat elements. Here we sequence …

This article reviews basic concepts, general applications, and the potential impact of next-
generation sequencing (NGS) technologies on genomics, with particular reference to …