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Sowmi Utiramerur

Stanford University

4

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Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.

2021 BMC Bioinformatics
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Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.

2019 bioRxiv
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Long-read genome sequencing identifies causal structural variation in a Mendelian disease

2018 Genetics in Medicine
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Long-read whole genome sequencing identifies causal structural variation in a Mendelian disease

2016 bioRxiv
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