scholarly journals PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data

2020 ◽  
Author(s):  
Jianteng Zhou ◽  
Jianing Gao ◽  
Huan Zhang ◽  
Daren Zhao ◽  
Ao Li ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sequencing Data ◽  
Inherited Disorders ◽  
Web Based ◽  
Next Generation Sequencing Technology ◽  
Whole Exome ◽  
Whole Exome Sequencing Data ◽  
Family Based

Abstract With the advances of next-generation sequencing technology, the field of disease research has been revolutionized. However, pinpointing the disease-causing variants from millions of revealed variants is still a tough task. Here, we have reviewed the existing linkage analysis tools and presented PedMiner, a web-based application designed to narrow down candidate variants from family based whole-exome sequencing (WES) data through linkage analysis. PedMiner integrates linkage analysis, variant annotation and prioritization in one automated pipeline. It provides graphical visualization of the linked regions along with comprehensive annotation of variants and genes within these linked regions. This efficient and comprehensive application will be helpful for the scientific community working on Mendelian inherited disorders using family based WES data.

scholarly journals Can whole-exome sequencing data be used for linkage analysis?

2015 ◽  
Vol 24 (4) ◽  
pp. 581-586 ◽  
Author(s):  
Steven Gazal ◽  
Simon Gosset ◽  
Edgard Verdura ◽  
Françoise Bergametti ◽  
Stéphanie Guey ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sequencing Data ◽  
Exome Sequencing Data ◽  
Whole Exome ◽  
Whole Exome Sequencing Data

scholarly journals A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data

2016 ◽  
Vol 2016 ◽  
pp. 1-16 ◽  
Author(s):  
Jennifer D. Hintzsche ◽  
William A. Robinson ◽  
Aik Choon Tan
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sequencing Data ◽  
Disease Treatment ◽  
Computational Tools ◽  
Whole Exome ◽  
Data Production ◽  
Whole Exome Sequencing Data ◽  
Computationally Intensive ◽  
Generation Technology

Whole Exome Sequencing (WES) is the application of the next-generation technology to determine the variations in the exome and is becoming a standard approach in studying genetic variants in diseases. Understanding the exomes of individuals at single base resolution allows the identification of actionable mutations for disease treatment and management. WES technologies have shifted the bottleneck in experimental data production to computationally intensive informatics-based data analysis. Novel computational tools and methods have been developed to analyze and interpret WES data. Here, we review some of the current tools that are being used to analyze WES data. These tools range from the alignment of raw sequencing reads all the way to linking variants to actionable therapeutics. Strengths and weaknesses of each tool are discussed for the purpose of helping researchers make more informative decisions on selecting the best tools to analyze their WES data.

scholarly journals EthSEQ: ethnicity annotation from whole exome sequencing data

2017 ◽  
Vol 33 (15) ◽  
pp. 2402-2404 ◽  
Author(s):  
Alessandro Romanel ◽  
Tuo Zhang ◽  
Olivier Elemento ◽  
Francesca Demichelis
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sequencing Data ◽  
Exome Sequencing Data ◽  
Whole Exome ◽  
Whole Exome Sequencing Data

scholarly journals HPexome: An automated tool for processing whole-exome sequencing data

SoftwareX ◽  
2020 ◽  
Vol 11 ◽  
pp. 100478
Author(s):  
Lucas L. Cendes ◽  
Welliton de Souza ◽  
Iscia Lopes-Cendes ◽  
Benilton S. Carvalho
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sequencing Data ◽  
Exome Sequencing Data ◽  
Whole Exome ◽  
Whole Exome Sequencing Data ◽  
Automated Tool

scholarly journals Assessing reliability of intra-tumor heterogeneity estimates from single sample whole exome sequencing data

PLoS ONE ◽  
2019 ◽  
Vol 14 (11) ◽  
pp. e0224143 ◽  
Author(s):  
Judith Abécassis ◽  
Anne-Sophie Hamy ◽  
Cécile Laurent ◽  
Benjamin Sadacca ◽  
Hélène Bonsang-Kitzis ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Tumor Heterogeneity ◽  
Single Sample ◽  
Sequencing Data ◽  
Exome Sequencing Data ◽  
Whole Exome ◽  
Whole Exome Sequencing Data
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