Background Genetic mutations that cause human disease are conventionally considered to
be inherited from one's parents and present in all somatic (body) cells. We do know …

Disease-causing repeat instability is an important and unique form of mutation that is linked
to more than 40 neurological, neurodegenerative and neuromuscular disorders. DNA repeat …

The expanded HTT CAG repeat causing Huntington's disease (HD) exhibits somatic
expansion proposed to drive the rate of disease onset by eliciting a pathological process …

Huntington disease is caused by the expansion of a CAG repeat encoding an extended
glutamine tract in a protein called huntingtin. Although the mutant protein is widely …

Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …

Huntington's disease (HD) is an inherited neurodegenerative disorder. The mutation which
causes the disease is an expansion in the number of repetitions of three nucleotides, C, A …

Huntington disease is caused by the expansion of a CAG repeat encoding an extended
glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the …

Amplification of DNA is required as a mandatory step during library preparation in most
targeted sequencing protocols. This can be a critical limitation when targeting regions that …

Huntington's Disease (HD) is caused by inheritance of a single disease-length allele
harboring an expanded CAG repeat, which continues to expand in somatic tissues with age …

In this chapter, we review the evolution of our understanding of the genetic aspects of HD,
and the applications of our understanding in the management of Huntington's disease …