Whole-Genome Sequencing for Optimized Patient Management

Whole-genome sequencing for optimized patient management.

Whole-genome sequencing of patient DNA can facilitate diagnosis of a disease, but its potential for guiding treatment has been under-realized. We interrogated the complete genome sequences of a 14-year-old fraternal twin pair diagnosed with dopa (3,4-dihydroxyphenylalanine)-responsive dystonia (DRD; Mendelian Inheritance in Man #128230). DRD is a genetically heterogeneous and clinically complex...

Matthew N . Bainbridge Whole - Genome Sequencing for Optimized Patient Management

information about a patient's disease, leading to more optimized treatment and a better outcome. only one twin pair, it does demonstrate how whole-genome sequencing could be applied to glean more detailed and coordination, and reduced hand tremor as evidenced by more legible handwriting. Although this study involved they showed improvement in their symptoms after 1 to 2 weeks, including greater...

Whole Genome Sequencing: An Efficient Approach in Food Safety Management System

Whole-Genome Bisulfite Sequencing

Next-generation sequencing technology has enabled genome-wide analysis of 5mC nucleotides at single-nucleotide resolution. Previous methods for whole-genome bisulfite sequencing (WGBS) yielded reduced genomic representation due to required DNA shearing, ligation of methylated sequencing adapters, and bisulfite conversion of unmethylated cytidine residues prior to sequencing. One disadvantage of...

Whole-genome re-sequencing.

DNA sequencing can be used to gain important information on genes, genetic variation and gene function for biological and medical studies. The growing collection of publicly available reference genome sequences will underpin a new era of whole genome re-sequencing, but sequencing costs need to fall and throughput needs to rise by several orders of magnitude. Novel technologies are being develop...