Author

Amy S. Nesmith

HudsonAlpha Institute for Biotechnology

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Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Benjamin T. Weaver· 1 shared Candice R. FinnilaiD· 1 shared Carla A. RichiD· 1 shared David E. Gray· 1 shared Edward J. Lose· 1 shared Elizabeth Martina BebiniD· 1 shared Gregory M. CooperiD· 1 shared Gregory S. BarshiD· 1 shared

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2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Benjamin T. Weaver

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1 paper

Recent·Most cited

GenomicsGenome MedicinePeer-reviewedMay 17, 2017

Genomic diagnosis for children with intellectual disability and/or developmental delay

Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral…·Gregory M. Cooper

This study analyzes genomic data from 371 children with intellectual disability or developmental delay to identify pathogenic variants and assess diagnostic utility.

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humanwhole-exome sequencing

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