Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Short read massive parallel sequencing has emerged as a standard diagnostic tool in the
medical setting. However, short read technologies have inherent limitations such as GC …

Most drugs entering clinical trials fail, often related to an incomplete understanding of the
mechanisms governing drug response. Machine learning techniques hold immense promise …

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Accurate prediction of an individual's phenotype from their DNA sequence is one of the great
promises of genomics and precision medicine. We extend a powerful individual-level data …

Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and
differences in how that DNA functions (alone or in combinations), alongside the environment …

Infectious diseases are a major global health issue. Diagnosis is a critical first step in
effectively managing their spread. Paper-based microfluidic diagnostics first emerged in …

Work over the past 25 years has resulted in the identification of genes responsible for~ 50%
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …

Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine
catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of …

With advances in point-of-care testing (POCT), lateral flow assays (LFAs) have been
explored for nucleic acid detection. However, biological samples generally contain complex …