Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Biotechnology
Link
http://link.springer.com/content/pdf/10.1186/s12864-018-4433-3.pdf
Reference48 articles.
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4. Van der Auwera G, Carneiro MO, Hartl C, et al. From FastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline: the genome analysis toolkit best practices pipeline. In: Bateman A, Pearson WR, Stein LD, Stormo GD, Yates JR, editors. Current protocols in bioinformatics. Hoboken, NJ, USA: John Wiley & Sons, Inc.; 2013. doi: 10.1002/0471250953.bi1110s43 .
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