Author

Laura K. Conlin

Children's Hospital of Philadelphia

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Bioinformatics· 1

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Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

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Jill R. MurrelliD· 1 shared Minjie LuoiD· 1 shared Ramakrishnan Rajagopalan· 1 shared

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2019-2019 · peak 1/yr

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Jill R. MurrellORCID

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1 paper

Recent·Most cited

Systematic and comprehensive benchmarking of an exome sequencing based germline copy-number variant detection pipeline to detect clinically relevant CNVs

Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin

This study benchmarks an exome sequencing-based CNV detection pipeline, showing improved sensitivity and reduced false discovery rate for clinically relevant variants.

bioRxiv · Apr 15, 2019 · PreprintBioinformatics