A phenotype centric benchmark of variant prioritisation tools

نویسندگان
چکیده

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Prioritisation of structural variant calls in cancer genomes

Sensitivity of short read DNA-sequencing for gene fusion detection is improving, but is hampered by the significant amount of noise composed of uninteresting or false positive hits in the data. In this paper we describe a tiered prioritisation approach to extract high impact gene fusion events from existing structural variant calls. Using cell line and patient DNA sequence data we improve the a...

متن کامل

NECTAR: a database of codon-centric missense variant annotations

NECTAR (Non-synonymous Enriched Coding muTation ARchive; http://nectarmutation.org) is a database and web application to annotate disease-related and functionally important amino acids in human proteins. A number of tools are available to facilitate the interpretation of DNA variants identified in diagnostic or research sequencing. These typically identify previous reports of DNA variation at a...

متن کامل

The Benchmark Simulation Models – A Valuable Collection of Modelling Tools

Over a decade ago, the concept of a tool that could be used to objectively evaluate the performance of control strategies through simulation using a standard model implementation was introduced for activated sludge wastewater treatment plants. That concept resulted in the development of the Benchmark Simulation Model No 1 (BSM1), the subsequent BSM1_LT and most recently BSM2. Debate about the n...

متن کامل

Designing a Benchmark for the Assessment of Schema Matching Tools

Over the years, many schema matching approaches have been developed to discover correspondences between schemas. Although this task is crucial in data integration, its evaluation, both in terms of matching quality and time performance, is still manually performed. Indeed, there is no common platform which gathers a collection of schema matching datasets to fulfil this goal. Another problem deal...

متن کامل

Benchmark for Evaluating Biological Image Analysis Tools

Biological images are critical components for a detailed understanding of the structure and functioning of cells and proteins. Image processing and analysis tools increasingly play a significant role in better harvesting this vast amount of data, most of which is currently analyzed manually and qualitatively. A number of image analysis tools have been proposed to automatically extract the image...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: npj Genomic Medicine

سال: 2018

ISSN: 2056-7944

DOI: 10.1038/s41525-018-0044-9