Improving bioinformatic pipelines for exome variant calling
Exome sequencing analysis is a cost-effective approach for identifying variants in coding regions. However, recognizing the relevant single nucleotide variants, small insertions and deletions remains a challenge for many researchers and diagnostic laboratories typically do not have access to the bio...
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Format: | Online |
Language: | English |
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BioMed Central
2012
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334555/ |