Overview Spinal muscular atrophy (SMA) has long been recognized as a serious neuromuscular disease, is currently ranked as the leading cause of early infant mortality, and is one of the most common recessive diseases worldwide. Two genes play a role in the onset and severity of SMA: SMN1 and SMN2. SMN1 is highly homologous to its paralog SMN2. These two genes are...

Both contigs and scaffolds are nucleotide sequences that are reconstructed in a genome sequencing project. Contig is a continuous piece of genomic sequence containing A, C, G, and T bases without gaps. A scaffold is a genomic sequence composed of contigs. Thus, the shortest assembled component is the contig, and scaffolds are combinations of contigs. By understanding the complexity of these...