Author

Lewis J. Kraft

Tempus Labs (United States)ORCID 0000-0001-8663-0596Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Francisco M. De La VegaiD· 1 shared Hyunseok Peter KangiD· 1 shared James HaniD· 1 shared Kelly A. PottsiD· 1 shared Pavana Anur· 1 shared Raul Torres· 1 shared Sean A. IrvineiD· 1 shared Sean TruongiD· 1 shared

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2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Francisco M. De La VegaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineBioinformatics AdvancesPeer-reviewedDec 26, 2024

Benchmarking of Germline Copy Number Variant Callers from Whole Genome Sequencing Data for Clinical Applications

Francisco M. De La Vega, Sean A. Irvine, Pavana Anur…·James Han

This study benchmarks CNV callers for WGS clinical applications, finding DRAGEN v4.2 offers the best balance of sensitivity and precision for detecting deletions and some duplications.

8 citations

whole-genome sequencingbenchmark study

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