Article

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

2020-10-13

Abstract excerpt

Copy number variations (CNVs) are major causative contributors both in the genesis of genetic diseases and human neoplasias. While “High-Throughput” sequencing technologies are increasingly becoming the primary choice for genomic screening analysis, their ability to efficiently detect CNVs is still heterogeneous and remains to be developed. The aim of this white paper is to provide a guiding framework for the futu...

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Literature Corpus work: c9e17d6d-a167-53ae-8e1a-871f61ad259c
DOI: 10.12688/f1000research.24887.1

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