Join us at NGSA 2016
Published by Atgenomix

We are presenting in Next Generation Sequencing Asia 2016; join us and learn about the benefits that Atgenomix SeqsLab platform software adds to the genomics analysis pipelines.

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Speeding up DNA Sequencing Analysis
Published by A-Tsai Su, PhD, Atgenomix CTO

Next-generation sequencing (NGS) has led to a huge amount of genomic data that need to be analyzed and interpreted. Parallelized computation is the necessity to speeding up and scaling out NGS sequencing pipelines ...

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A Good Practice to Systematically Interpret Genome Variants
Published by A-Tsai Su, PhD, Atgenomix CTO

When you have a cohort of case samples for a particular genetic disorder, the first step to quickly filter out case samples with target variants is applying ACMG rules to understand pathogenicity. Then use those known case samples as control samples and apply case-control analysis to further identify more target variants. Finally, apply analytics-driven investigation to search, filter, analyze variants of unknown significance in the remaining case samples.


Why Pathogenic Variants Reported in ClinVar Have High Allele Frequencies?
Published by Yi-An Tong, Bioinformatist

Over 200 pathogenic variables in ClinVar are found with high AF (> 90%) in most population annotation databases. The alternative allele called is the same as in HG19 reference...