Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive,
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …

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

Transposable elements are abundant in the human genome, and great strides have been
made in pinpointing variations in these repetitive sequences using whole-genome …

Genes | Free Full-Text | Monogenic Parkinson’s Disease: Genotype, Phenotype,
Pathophysiology, and Genetic Testing Next Article in Journal enChIP-Seq Analyzer: A …

Uncharted Regions of the Human Genome The genome is not akin to a string of fixed length.
Many large segments of DNA may be present or absent—a major contributor to pathogenic …

Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

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 …

In the past several years, single-molecule sequencing platforms, such as those by Pacific
Biosciences and Oxford Nanopore Technologies, have become available to researchers …