Genotyping and Variant diagnosis

Biotechvana offers bioinformatic services for calling and annotation of variants in exome/genome/amplicon/transcriptome NGS aproaches. Although each study needs to be specified in the context of your experiment design and the species and/or sample in analysis, below we summarize the usual workflow followed by us in this type of studies.

1) Preprocessing of raw data 2) Mapping on reference 3) Alignment post-processing 4) Variant Calling and annotation 5) Filtration and priorization

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Biotechvana SL
Calle Catedrático José Beltrán, 2
46980 Paterna (Valencia) Spain
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