Author

Nicholas J. Marini

QB3ORCID 0000-0001-8782-2573Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Gary Michael ShawiD· 1 shared Jasper RineiD· 1 shared Kripa Asrani· 1 shared Wei YangiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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4 top collaborators · 6 mutual co-author links

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1 shared paperGenetics

Gary Michael ShawORCID

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1 paper

Recent·Most cited

GeneticsAmerican Journal of Medical Genetics Part APeer-reviewedMay 7, 2019

Accumulation of Rare Coding Variants in Genes Implicated in Risk of Human Cleft Lip with or without Cleft Palate

Nicholas J. Marini, Kripa Asrani, Wei Yang…·Gary Michael Shaw

The paper identifies rare coding variants in genes associated with cleft lip with or without cleft palate by sequencing 49 candidate genes in cases and controls, finding higher variant burdens in cases.

15 citations

humanwhole-exome sequencing

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