keyword
MENU ▼
Read by QxMD icon Read
search

Next gen sequencing in clinical practice

keyword
https://www.readbyqxmd.com/read/26467726/analysis-of-the-genes-responsible-for-steroid-resistant-nephrotic-syndrome-and-or-focal-segmental-glomerulosclerosis-in-japanese-patients-by-whole-exome-sequencing-analysis
#1
Daisuke Ogino, Taeko Hashimoto, Motoshi Hattori, Noriko Sugawara, Yuko Akioka, Gen Tamiya, Satoshi Makino, Kentaro Toyota, Tetsuo Mitsui, Kiyoshi Hayasaka
Steroid-resistant nephrotic syndrome (SRNS) represents glomerular disease resulting from a number of different etiologies leading to focal segmental glomerulosclerosis (FSGS). Recently, many genes causing SRNS/FSGS have been identified. These genes encode the proteins associated with the formation and/or maintenance of glomerular filtration barrier. Next-generation sequencing is used to analyze large numbers of genes at lower costs. To identify the genetic background of Japanese patients, we studied 26 disease-causing genes using whole-exome sequencing analysis in 24 patients with SRNS and/or FSGS from 22 different Japanese families...
February 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/25642706/the-next-steps-in-next-gen-sequencing-of-cancer-genomes
#2
REVIEW
D Neil Hayes, William Y Kim
The necessary infrastructure to carry out genomics-driven oncology is now widely available and has resulted in the exponential increase in characterized cancer genomes. While a subset of genomic alterations is clinically actionable, the majority of somatic events remain classified as variants of unknown significance and will require functional characterization. A careful cataloging of the genomic alterations and their response to therapeutic intervention should allow the compilation of an "actionability atlas" and the creation of a genomic taxonomy stratified by tumor type and oncogenic pathway activation...
February 2015: Journal of Clinical Investigation
1
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"