Author

V. Gonzales-Pena

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Bioengineering· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:polygenic risk· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

B. Behr· 1 shared C. Gawad· 1 shared D. Klein· 1 shared J. Luquette· 1 shared L. Puzon· 1 shared N. Siddiqui· 1 shared P. Park· 1 shared V. Reddy· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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9 top collaborators · 36 mutual co-author links

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1 shared paperBioengineering

B. Behr

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1 paper

Recent·Most cited

BioengineeringbioRxivPreprintJul 6, 2021

Genome-wide Disease Screening in Early Human Embryos with Primary Template-Directed Amplification

Y. Xia, V. Gonzales-Pena, D. Klein…·C. Gawad

This paper introduces a method to screen early human embryos for genetic variants using primary template-directed amplification, identifying aneuploidy, mitochondrial variants, and disease-causing mutations, and computing polygenic risk scores.

DOI 10.1101/2021.07.06.451077

humanwhole-genome sequencing

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