Author

Ben Schmandt

Massachusetts General Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Benjamin M. NealeiD· 1 shared Daniel G. MacArthuriD· 1 shared Emma Daly· 1 shared Kaitlin E. SamochaiD· 1 shared Konrad J. KarczewskiiD· 1 shared Manuel A. RivasiD· 1 shared Mark J. DalyiD· 1 shared Sidi ZhangiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperGenomics

Benjamin M. NealeORCID

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1 paper

Recent·Most cited

GenomicsGenome ResearchPeer-reviewedJul 1, 2018

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

Sidi Zhang, Kaitlin E. Samocha, Manuel A. Rivas…·Mark J. Daly

The paper quantifies mutational intolerance near splice sites, showing specific reference alleles are sensitive to mutations and linked to lower spliced transcript levels and Mendelian mutations.

47 citations

humanbulk RNA-seq

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