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Robuta

https://pubmed.ncbi.nlm.nih.gov/40514331/
Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as...
This integrative genomic study identifies novel risk loci and mechanistic pathways in SSc, highlighting MICB, NOTCH4, and interferon-related genes. The...
exome sequencingmachine learningidentifymicbinterferon
https://www.cb-gene.com/tmb-wes.html
Tumor mutational burden by whole exome sequencing service - CB-Gene
CB-Gene quantifies tumor mutational burden using whole exome sequencing and rigorous bioinformatics to support immunotherapy decision making. Send sample...
tumor mutational burdenwhole exome sequencingservicecbgene
https://www.jci.org/articles/view/182768/figure/8
JCI - Whole-exome sequencing association study reveals genetic effects on tumor microenvironment...
whole exome sequencingjciassociationstudyreveals
https://pubmed.ncbi.nlm.nih.gov/31182824/
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical...
Our review demonstrates that ES consistently outperforms CMA for evaluation of unexplained NDDs. We propose a diagnostic algorithm placing ES at the beginning...
meta analysisexome sequencingmultidisciplinaryconsensusstatement
https://pubmed.ncbi.nlm.nih.gov/37592023/
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of...
Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast...
exome sequencingbreast cancersusceptibilitygenesdefines
https://www.jci.org/articles/view/182768/sd/4
JCI - Whole-exome sequencing association study reveals genetic effects on tumor microenvironment...
whole exome sequencingjciassociationstudyreveals
https://genomics-hub.com/
Genomics Hub - Genetics Counselling, Genetics, Online Platform,, Exome Sequencing, Genetics...
Your gateway to personalized genetic counseling and cutting-edge genomics. Access certified genetic counselors, educational resources, and remote support....
online platformexome sequencinggenomicshubgenetics
https://pubmed.ncbi.nlm.nih.gov/24599517/
An evaluation of copy number variation detection tools from whole-exome sequencing data
Copy number variation (CNV) has been found to play an important role in human disease. Next-generation sequencing technology, including whole-genome sequencing...
copy number variationevaluationdetectiontoolswhole
https://pubmed.ncbi.nlm.nih.gov/37386248/
Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that...
accuraterarevariantphasingwhole
https://pubmed.ncbi.nlm.nih.gov/37943464/
Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders
Chromosomal microarray is recommended as the first line of investigation in neurodevelopmental disorders (NDDs). However, advances in next-generation...
exome sequencingclinicalutilityprobandneurodevelopmental
https://pubmed.ncbi.nlm.nih.gov/21949389/
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate...
To catalog protein-altering mutations that may drive the development of prostate cancers and their progression to metastatic disease systematically, we...
exome sequencingspectrummutationfrequenciesadvanced