The whole genome sequencing to identify Mendelian disorders

The current way to determine the cause of disease is finding mutations via DNA sequencing. In order to reduce costs only coding regions are sequenced and analyzed. Unfortunately, several Mendelian traits that can be the basis for specific diseases are not present in coding regions. Therefore, the sequencing of the whole genome might contribute better understand the causal variant of diseases. Scientists from the Institute for Systems Biology in Seattle proposed this approach to study the Mendelian hesitance of two recessive disorders. They analyzed the whole genomes of healthy parents and sick children. They delineated an accurate recombination map showing exactly which pieces of parental chromosomes had been assembled in offspring genetic material. Then, they corrected 70% of sequencing errors and especially they reduced the search space for the disease- causing variants. This study is important because it demonstrated that is possible to identify the genes involved in etiology of certain disease by sequencing the DNA of the family in which this disease appears. Based on this observation, scientists plan to analyze the genome of family with Huntington’s disease. This approach requires the absolute precision of sequencing data.