کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
504840 864440 2016 5 صفحه PDF ندارد دانلود رایگان
عنوان انگلیسی مقاله
WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data
ترجمه فارسی عنوان
WHATIF: یک نرم افزار دسکتاپ با منبع باز برای استخراج و مدیریت یک یافته اتفاقی از داده نوع توالی نسل بعدی
کلمات کلیدی
ژنومیک؛ اینترنت؛ توالی؛ نرم افزار
Genomics; Internet; Sequencing; Software
موضوعات مرتبط
مهندسی و علوم پایه مهندسی کامپیوتر نرم افزارهای علوم کامپیوتر
چکیده انگلیسی


• WHATIF is self-explanatory and accesses the most updated variation information.
• WHATIF offers user-friendly interface and efficient ways to investigate variation.
• WHATIF׳s design and implementation is highly flexible and allows for customization.

BackgroundIdentification and evaluation of incidental findings in patients following whole exome (WGS) or whole genome sequencing (WGS) is challenging for both practicing physicians and researchers. The American College of Medical Genetics and Genomics (ACMG) recently recommended a list of reportable incidental genetic findings. However, no informatics tools are currently available to support evaluation of incidental findings in next-generation sequencing data.MethodsThe Wisconsin Hierarchical Analysis Tool for Incidental Findings (WHATIF), was developed as a stand-alone Windows-based desktop executable, to support the interactive analysis of incidental findings in the context of the ACMG recommendations. WHATIF integrates the European Bioinformatics Institute Variant Effect Predictor (VEP) tool for biological interpretation and the National Center for Biotechnology Information ClinVar tool for clinical interpretation.ResultsAn open-source desktop program was created to annotate incidental findings and present the results with a user-friendly interface. Further, a meaningful index (WHATIF Index) was devised for each gene to facilitate ranking of the relative importance of the variants and estimate the potential workload associated with further evaluation of the variants. Our WHATIF application is available at: http://tinyurl.com/WHATIF-SOFTWAREConclusionsThe WHATIF application offers a user-friendly interface and allows users to investigate the extracted variant information efficiently and intuitively while always accessing the up to date information on variants via application programming interfaces (API) connections. WHATIF׳s highly flexible design and straightforward implementation aids users in customizing the source code to meet their own special needs.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Computers in Biology and Medicine - Volume 68, 1 January 2016, Pages 165–169
نویسندگان
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