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'''"[[Journal:Bioinformatics workflow for clinical whole genome sequencing at Partners HealthCare Personalized Medicine|Bioinformatics workflow for clinical whole genome sequencing at Partners HealthCare Personalized Medicine]]"'''
'''"[[Journal:ChromaWizard: An open-source image analysis software for multicolor fluorescence in situ hybridization analysis|ChromaWizard: An open-source image analysis software for multicolor fluorescence in situ hybridization analysis]]"'''


Effective implementation of precision medicine will be enhanced by a thorough understanding of each patient’s genetic composition to better treat his or her presenting symptoms or mitigate the onset of disease. This ideally includes the sequence [[information]] of a complete genome for each individual. At Partners HealthCare Personalized Medicine, we have developed a clinical process for whole genome sequencing (WGS) with application in both healthy individuals and those with disease. In this manuscript, we will describe our [[bioinformatics]] strategy to efficiently process and deliver [[Genomics|genomic]] data to geneticists for clinical interpretation. We describe the handling of data from FASTQ to the final variant list for clinical review for the final report. We will also discuss our methodology for validating this workflow and the cost implications of running WGS. ('''[[Journal:Bioinformatics workflow for clinical whole genome sequencing at Partners HealthCare Personalized Medicine|Full article...]]''')<br />
Multicolor image analysis finds its applications in a broad range of biological studies. Specifically, multiplex [[wikipedia:Fluorescence in situ hybridization|fluorescence ''in situ'' hybridization]] (M‐FISH) for chromosome painting facilitates the analysis of individual chromosomes in complex metaphase spreads and is widely used to detect both numerical and structural aberrations. While this is well established for human and mouse [[wikipedia:Karyotype|karyotypes]], for which species sophisticated software and analysis tools are available, other organisms and species are less well served. Commercially available software is proprietary and not easily adaptable to other karyotypes. Therefore, a publicly available open-source software that combines flexibility and customizable functionalities is needed. Here we present such a tool, called “ChromaWizard,” which is based on popular scientific image analysis libraries (OpenCV, scikit‐image, and NumPy). We demonstrate its functionality on the example of primary Chinese hamster (''Cricetulus griseus'') fibroblasts metaphase spreads and on Chinese hamster ovary cell lines, known for their large number of chromosomal rearrangements. ('''[[Journal:ChromaWizard: An open-source image analysis software for multicolor fluorescence in situ hybridization analysis|Full article...]]''')<br />
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Revision as of 22:58, 24 February 2020

Fig4 Auer CytometryPartA2018 93-7.jpg

"ChromaWizard: An open-source image analysis software for multicolor fluorescence in situ hybridization analysis"

Multicolor image analysis finds its applications in a broad range of biological studies. Specifically, multiplex fluorescence in situ hybridization (M‐FISH) for chromosome painting facilitates the analysis of individual chromosomes in complex metaphase spreads and is widely used to detect both numerical and structural aberrations. While this is well established for human and mouse karyotypes, for which species sophisticated software and analysis tools are available, other organisms and species are less well served. Commercially available software is proprietary and not easily adaptable to other karyotypes. Therefore, a publicly available open-source software that combines flexibility and customizable functionalities is needed. Here we present such a tool, called “ChromaWizard,” which is based on popular scientific image analysis libraries (OpenCV, scikit‐image, and NumPy). We demonstrate its functionality on the example of primary Chinese hamster (Cricetulus griseus) fibroblasts metaphase spreads and on Chinese hamster ovary cell lines, known for their large number of chromosomal rearrangements. (Full article...)

Recently featured:

Haves and have nots must find a better way: The case for open scientific hardware
CytoConverter: A web-based tool to convert karyotypes to genomic coordinates
Implementing a novel quality improvement-based approach to data quality monitoring and enhancement in a multipurpose clinical registry