With the emergence of CRISPR-mediated genome editing, there is an increasing desire for easy-to-use tools that can process and overview the spectra of outcomes. Here, we present Sequence Interrogation and Quantification (SIQ), a simple-to-use software tool that enables researchers to retrieve, data-mine and visualize complex sets of targeted sequencing data. SIQ can analyse Sanger sequences but specifically benefit the processing of short- and long-read next-generation sequencing data (e.g. Illumina and PacBio). SIQ facilitates their interpretation by establishing mutational profiles, with a focus on event classification such as deletions, single-nucleotide variations, (templated) insertions and tandem duplications. SIQ results can be directly analysed and visualized via SIQPlotteR, an interactive web tool that we made freely available. Using insightful tornado plot visualizations as outputs, we illustrate that SIQ readily identifies sequence- and repair pathway-specific mutational signatures in a variety of model systems, such as nematodes, plants and mammalian cell culture.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9442499PMC
http://dx.doi.org/10.1093/nargab/lqac063DOI Listing

Publication Analysis

Top Keywords

sequencing data
12
siq
6
siq easy
4
easy quantitative
4
quantitative measurement
4
measurement mutation
4
mutation profiles
4
profiles sequencing
4
data emergence
4
emergence crispr-mediated
4

Similar Publications

This study aimed to identify shared gene expression related to circadian rhythm disruption in polycystic ovary syndrome (PCOS) and non-alcoholic fatty liver disease (NAFLD) to discover common diagnostic biomarkers. Visceral fat RNA samples were collected from 12 PCOS and 14 non-PCOS patients, a sample size representing the clinical situation and sufficient to capture PCOS gene expression profiles. Along with liver transcriptome profiles from NAFLD patients, these data were analyzed to identify crosstalk circadian rhythm-related genes (CRRGs) between the diseases.

View Article and Find Full Text PDF

Background: The endangered Kashmir musk deer (Moschus cupreus), native to high-altitude Himalayas, is an ecological significant and endangered ungulate, threatened by habitat loss and poaching for musk pod distributed in western Himalayan ranges of India, Nepal and Afghanistan. Despite its critical conservation status and ecological importance in regulating vegetation dynamics, knowledge gaps persist regarding its population structure and genetic diversity, hindering effective management strategies.

Methods And Results: We aimed to understand the population genetics of Kashmir musk deer in north-western Himalayas using two mitochondrial DNA (mtDNA) regions and 11 microsatellite loci.

View Article and Find Full Text PDF

Some patients with metastatic castration-resistant prostate cancer (mCRPC) possess germline or acquired defects in the DNA damage repair (DDR) genes BRCA1 and BRCA2. Tumors with BRCA mutations exhibit sensitivity to poly-ADP ribose polymerase inhibitors (PARPi) such as olaparib and rucaparib. As a result, molecular diagnostic testing to identify patients with BRCA mutations eligible for the PARPi therapy has become an integral component of managing patients with mCRPC.

View Article and Find Full Text PDF

The commercial roots of the genomic commons.

Soc Stud Sci

January 2025

Science, Technology and Innovation Studies, The University of Edinburgh, Edinburgh, Scotland, UK.

Accounts of the origins of the genomic commons typically focus on the development of public repositories and data-sharing agreements. This article tells a different story. During the 1990s in the United States, efforts of private companies to prevent the patenting of certain kinds of DNA sequences were essentially a conservative response to shifts in the sociotechnical constitution of the pharmaceutical innovation system, and to the operation of intellectual property as one of the key knowledge control regimes that regulate that system.

View Article and Find Full Text PDF

Purpose: Pulmonary MRI faces challenges due to low proton density, rapid transverse magnetization decay, and cardiac and respiratory motion. The fermat-looped orthogonally encoded trajectories (FLORET) sequence addresses these issues with high sampling efficiency, strong signal, and motion robustness, but has not yet been applied to phase-resolved functional lung (PREFUL) MRI-a contrast-free method for assessing pulmonary ventilation during free breathing. This study aims to develop a reconstruction pipeline for FLORET UTE, enhancing spatial resolution for three-dimensional (3D) PREFUL ventilation analysis.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!