… 3′ of ORF1ab on the positive-sense genome (including E and N) are transcribed (from
negative-sense RNA) as subgenomic RNAs and include a short leader sequence (L, black box) …

Purpose: Ehlers–Danlos syndrome (EDS) comprises a group of overlapping hereditary
disorders of connective tissue with significant morbidity and mortality, including major vascular …

Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10
years, including the recent identification of association between MND and variants in TBK1 …

Cilia are small microtubule-based structures found on the surface of most mammalian cells,
which have key sensory and sometimes motile functions. Primary ciliary dyskinesia (PCD) is …

Background Multi-allelic copy number variants include examples of extensive variation
between individuals in the copy number of important genes, most notably genes involved in …

Background Despite the emergence of cell-free DNA (cfDNA) as a clinical biomarker in
cancer, the tissue origins of cfDNA in healthy individuals have to date been inferred only by …

To the Editor: In suspected autosomal recessive disease without a genetic diagnosis, the risk
to future pregnancies is generally reported as 25%, assuming inheritance of one causative …

Background The determination of structural haplotypes at copy number variable regions can
indicate the mechanisms responsible for changes in copy number, as well as explain the …

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by
progressive motor neuron dysfunction and loss. A portion of ALS cases are caused by …

Transposable elements can cause catastrophic genomic instability and are tightly regulated
by the host through multiple restriction pathways. Domesticated elements are derived from …