Author

L. Philip Schumm

University of ChicagoORCID 0000-0002-3050-2429Unclaimed 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· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Research Focus:differential expression· 1 Research Focus:fine-mapping· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Harry Ostrer M. DiD· 2 shared Kyle GettleriD· 2 shared Mamta GiriiD· 2 shared Talin HarituniansiD· 2 shared Aarno V. PalotieiD· 1 shared Aayushee JainiD· 1 shared Adam P. LevineiD· 1 shared Alain BittoniD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Harry Ostrer M. DORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedAug 29, 2022

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

Aleksejs Sazonovs, Christine R. Stevens, Guhan Ram Venkataraman…·Rasha Shawky

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

197 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintJul 1, 2020

Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients

Yiming Wu, Kyle Gettler, Mamta Giri…·Yuval Itan

The paper identifies 7 novel IBD-causing genes in Ashkenazi Jewish IBD patients using exome sequencing and analyzes their overlap with early-onset IBD and other diseases.

DOI 10.1101/2020.07.01.20143750

humanwhole-exome sequencing

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