Whole-exome sequencing - Open Access .click

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Multi-region Whole Exome Sequencing of Intraductal Papillary Mucinous Neoplasms Reveals Frequent Somatic KLF4 Mutations Predominantly in Low-Grade Regions

Gut, 2020
Objective Intraductal papillary mucinous neoplasms (IPMNs) are non-invasive precursor lesions that can progress to invasive pancreatic cancer and are classified as low-grade or high-grade based on the morphology of the neoplastic epithelium.
Kohei Fujikura +27 more
semanticscholar +1 more source

Comparison of Variant Calls from Whole Genome and Whole Exome Sequencing Data Using Matched Samples [PDF]

, 2018
Whole exome sequencing (WES) has been extensively used in genomic research. As sequencing costs decline it is being replaced by whole genome sequencing (WGS) in large-scale genomic studies, but more comparative information on WES and WGS datasets would ...
Sigurgeirsson, B. +15 more
core +1 more source

Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing. [PDF]

, 2020
Background Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints.
Zamani, Mina +12 more
core +1 more source

Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders

JAMA Network Open
This economic evaluation estimates the cost-effectiveness of whole-genome sequencing compared with whole-exome sequencing and conventional testing in children with suspected genetic disorders over their lifetime.
M. Nurchis +10 more
semanticscholar +1 more source

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

bioRxiv, 2019
Sequencing-based studies have identified novel risk genes for rare, severe epilepsies and revealed a role of rare deleterious variation in common epilepsies.
Y. Feng +233 more
semanticscholar +1 more source

Whole exome sequencing summary statistics. [PDF]

, 2015
Whole exome sequencing summary statistics.
James McKay (89949) +19 more
core +1 more source

Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Frontiers in Genetics, 2021
Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion ...
Yiehen Tung +7 more
doaj +1 more source

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes [PDF]

, 2013
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes ...
Schellenberg, Gerard D. +61 more
core +1 more source

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

PLoS ONE, 2014
Exome sequencing provides unprecedented insights into cancer biology and pharmacological response. Here we assess these two parameters for the NCI-60, which is among the richest genomic and pharmacological publicly available cancer cell line databases ...
William C Reinhold +11 more
doaj +1 more source

Isolation of single cells from human hepatoblastoma tissues for whole-exome sequencing

STAR Protocols, 2023
Summary: By combining single-cell processing with whole-exome sequencing, we have developed single-cell whole-exome sequencing to investigate the mechanisms of hepatoblastoma development and to provide potential targets and therapeutic approaches for ...
Jian He +4 more
doaj +1 more source

medicine
humans
3. good health

exome
biology
whole exome sequencing

sequence analysis, dna
exome sequencing
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