Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation
During the last few years, next-generation sequencing (NGS) technologies have accelerated the detection of genetic variants resulting in the rapid discovery of new disease-associated genes. However, the wealth of variation data made available by NGS alone is not sufficient to understand the mechanis...
Main Authors: | , , , , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
BlackWell Publishing Ltd
2014
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107114/ |