Unknown

Dataset Information

0

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

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.

SUBMITTER: Zhou J 

PROVIDER: S-EPMC8138824 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Zhou Jianteng J   Gao Jianing J   Zhang Huan H   Zhao Daren D   Li Ao A   Iqbal Furhan F   Shi Qinghua Q   Zhang Yuanwei Y  

Briefings in bioinformatics 20210501 3

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 ann  ...[more]

Similar Datasets

Unknown Can whole-exome sequencing data be used for linkage analysis?
| S-EPMC4929867 | biostudies-literature
Unknown RefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing.
| S-EPMC4849420 | biostudies-literature
Unknown Analysis of Whole Exome Sequencing with Cardiometabolic Traits Using Family-Based Linkage and Association in the IRAS Family Study.
| S-EPMC5719883 | biostudies-literature
Unknown EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
| S-EPMC4053953 | biostudies-literature
Unknown Family-based exome sequencing combined with linkage analyses identifies rare susceptibility variants of MUC4 for gastric cancer.
| S-EPMC7377420 | biostudies-literature
Unknown Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.
| S-EPMC10265870 | biostudies-literature
Unknown CANOES: detecting rare copy number variants from whole exome sequencing data.
| S-EPMC4081054 | biostudies-literature
Unknown Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
| S-EPMC4418901 | biostudies-literature
Unknown Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study.
| S-EPMC10480707 | biostudies-literature
Unknown ECOLE: Learning to call copy number variants on whole exome sequencing data.
| S-EPMC10762021 | biostudies-literature