exome उदाहरण वाक्य
उदाहरण वाक्य
- This exciting finding demonstrates that exome sequencing has the potential to locate causative genes in complex diseases, which previously has not been possible due to limitations in traditional methods.
- Whole exome sequencing is a brute-force approach that involves using modern day sequencing technology and DNA sequence assembly tools to piece together all coding portions of the genome.
- The exome sequencing studies of populations in Bulgaria and Sweden revealed that the disorder is likely caused by a lot of rare genetic mutations rather than a few common mutations.
- In 2014 a human genetic disorder ( Xia-Gibbs Syndrome ) caused by " de novo " mutations in AHDC1 was discovered through whole-exome sequencing.
- A second report was conducted on exome sequencing of individuals with a mendelian disorder known as Miller syndrome ( MIM # 263750 ), a rare disorder of autosomal recessive inheritance.
- Exome sequencing is especially effective in the study of rare Mendelian diseases, because it is an efficient way to identify the genetic variants in all of an individual's genes.
- Because of its biological importance, and the fact that it constitutes less than 2 % of the genome, sequencing of the exome was the first major milepost of the Human Genome Project.
- The first target enrichment strategy to be applied to whole exome sequencing was the array-based hybrid capture method in 2007, but in-solution capture has gained popularity in recent years.
- Studies of genetic association aim to test whether single-locus alleles or genotype frequencies ( or more generally, multilocus haplotype frequencies ) differ between two groups of individuals ( usually whole exome sequencing.
- Although exome sequencing is more expensive than hybridization-based technologies on a per-sample basis, its cost has been decreasing due to the falling cost and increased throughput of whole genome sequencing.