The wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …

Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Current methods to delete genomic sequences are based on clustered regularly interspaced
short palindromic repeats (CRISPR)–Cas9 and pairs of single-guide RNAs (sgRNAs), but …

Genome-wide association studies (GWAS) have now correlated hundreds of genetic
variants with complex genetic diseases and drug efficacy. Functional characterization of …

Genomic sequencing technologies have revolutionized mutation detection of the genetic
diseases in the past few years. In recent years, the third generation sequencing (TGS) has …

Muscular dystrophies are debilitating disorders that result in progressive weakness and
degeneration of skeletal muscle. Although the genetic mutations and clinical abnormalities …

Myotonic dystrophy type I (DM1) is a multisystemic autosomal-dominant inherited human
disorder that is caused by CTG microsatellite repeat expansions (MREs) in the 3 …

The human microbiome significantly influences drug metabolism through the gut–liver axis,
leading to modified drug responses and potential toxicity. Due to the complex nature of the …

Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy affecting many
different body tissues, predominantly skeletal and cardiac muscles and the central nervous …

The CRISPR-Cas system has undoubtedly revolutionized the genome editing field, enabling
targeted gene disruption, regulation, and recovery in a guide RNA-specific manner. In this …