Simple Summary Next-generation sequencing (NGS) is a powerful tool used in genomics
research. NGS can sequence millions of DNA fragments at once, providing detailed …

Executive summary From the short-term and long-term effects of the COVID-19 pandemic to
the health insecurities brought about by climate change, health futures are unfolding in an …

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 The 2022 Nucleic Acids Research Database Issue contains 185 papers, including
87 papers reporting on new databases and 85 updates from resources previously published …

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

Neuromuscular diseases (NMDs) affect∼ 15 million people globally. In high income settings
DNA-based diagnosis has transformed care pathways and led to gene-specific therapies …

Given the genomic uniqueness, a local data set is most desired for Indians, who are
underrepresented in existing public databases. We hypothesize patients with rare …

Introduction Genetic variants contribute to differential responses to non-insulin antidiabetic
drugs (NIADs), and consequently to variable plasma glucose control. Optimal control of …

The advent of next-generation sequencing (NGS) has brought about a paradigm shift in
genomics research, offering unparalleled capabilities for analyzing DNA and RNA …

The Reference Human Genome remains the single most important resource for map**
genetic variations and assessing their impact. However, it is monophasic, incomplete and …