Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
Abstract Background The conventional variant calling of pathogenic alleles in exome and genome sequencing requires the presence of the non-pathogenic alleles as genome references. This hinders the correct identification of variants with minor and/or pathogenic reference alleles warranting additional...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-01-01
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| Series: | BMC Genomics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12864-018-4433-3 |