Part of the book: Numerical Simulations of Physical and Engineering Processes
In the next-generation sequencing (NGS) methods, a DNA molecule of an individual is broken down into many small fragments to make up the so-called sequencing library. These small fragments serve as a template for the synthesis of numerous complementary fragments (called reads). Every small piece of the original DNA is copied many times in a variable number of reads. Depending on the desired accuracy level, it is possible to set the system to achieve a certain level of coverage, i.e., a number of reads per fragment. A level of 30X coverage is already sufficient for the routine diagnosis of most of the Mendelian diseases. All the sequences are then transferred into a computer and aligned with a reference sequence available in the international databases. By this way, all sequences of reads can be recomposed as a fine puzzle to obtain the sequence of a single gene or whole genome. The NGS machines, available today, are very flexible devices. In fact, an NGS sequencer can be used for different types of applications: (1) whole-genome sequencing (WGS): analysis of the entire genome of an individual; (2) whole exome sequencing (WES): analysis of the entire coding genes of an individual; (3) targeted sequencing: analysis of a set of genes or a single gene; (4) transcriptome analysis: analysis of all the RNA produced by specific cells.
Part of the book: Trends and Advances in Veterinary Genetics
In the past fifteen years, tremendous progress has been made in dog genomics. Several genetic aspects of cancer, heart disease, hip dysplasia, vision and hearing problems in dogs have been investigated and studied in detail. Genome-wide associative studies have made it possible to identify several genes associated with diseases, morphological and behavioral traits. The dog genome contains an extraordinary amount of genetic variability that distinguishes the different dog breeds. As a consequence of the selective programs, applied using stringent breed standards, each dog breed represents, today, a population isolated from the others. The availability of modern next generation sequencing (NGS) techniques and the identification of millions of single functional mutations (SNPs) has enabled us to obtain new and unknown detailed genomic data of the different breeds.
Part of the book: Canine Genetics, Health and Medicine