Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Since the release of the complete human genome, the priority of human genomic study has
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …

Abstract We initiate the Westlake BioBank for Chinese (WBBC) pilot project with 4,535 whole-
genome sequencing (WGS) individuals and 5,841 high-density genotyping individuals, and …

Despite substantial advances in disease genetics, studies to date have largely focused on
individuals of European descent. This limits further discoveries of novel functional genetic …

Over the past 30 years (the timespan of a generation), advances in genomics technologies
have revealed tremendous and unexpected variation in the human genome and have …

Immune-related adverse events (irAEs) induced by checkpoint inhibitors involve a multitude
of different risk factors. Here, to interrogate the multifaceted underlying mechanisms, we …

Background Postoperative minimal residual disease (MRD) detection using circulating-
tumour DNA (ctDNA) requires a highly sensitive analysis platform. We have developed a …

Although Slavic populations account for over 4.5% of world inhabitants, no centralised, open-
source reference database of genetic variation of any Slavic population exists to date. Such …

Apocrine carcinoma is a rare breast cancer subtype. As such, the genomic characteristics of
apocrine carcinoma with triple negative immunohistochemical results (TNAC), which has …

A complete characterization of genetic variation is a fundamental goal of human genome
research. Long-read sequencing has improved the sensitivity of structural variant discovery …