Implementation of next-generation sequencing to detect known and novel gene disorders.
To conquer those demanding situations, we designed an exon sequencing array to target known and candidate genes using Agilent capture. finally, DNA samples from households, along with sufferers with regarded mutations were sequenced with the use of the Illumina Genome Analyzer. Specific filtering approaches have been implemented to pick out the genetic disorder.
The most in all likelihood ailment-causing versions were analyzed by means of Sanger sequencing. Co-segregation and sequencing analysis of managed samples tested the pathogenicity of the discovered variations.
The phenotype of the patients covered retinitis pigmentosa, congenital stationary nighttime blindness, quality ailment, early-onset cone dystrophy, and Stargardt disease. In control samples with recognized genotypes, NGS detected the expected mutations.
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