Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

A crucial feature of gene expression involves RNA processing to produce 3′ ends through
a process termed 3′ end cleavage and polyadenylation (CPA). This ensures the nascent …

Given the rapidly decreasing cost and increasing speed and accessibility of massively
parallel technologies, the integration of comprehensive genomic, transcriptomic, and …

Zellweger spectrum disorder (ZSD) is a rare, debilitating genetic disorder of peroxisome
biogenesis that affects multiple organ systems and presents with broad clinical …

Genetic mutations that cause hereditary diseases usually affect the composition of the
transcribed mRNA and its encoded protein, leading to instability of the mRNA and/or the …

The problem of 'missing heritability'affects both common and rare diseases hindering:
discovery, diagnosis, and patient care. The 'missing heritability'concept has been mainly …

Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild.
While individual phenotypes (eg, Zellweger syndrome [ZS], neonatal adrenoleukodystrophy …

The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid
glycan synthesis and attachment. They affect multiple organ/systems, but non‐specific …