Author

Aayushee Jain

Massachusetts General HospitalORCID 0000-0002-5018-3234Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Çiğdem Sevim BayrakiD· 2 shared D.N. CooperiD· 2 shared Girish N. NadkarniiD· 2 shared Peter D. Stenson· 2 shared Tielman T. Van VleckiD· 2 shared Yuval ItaniD· 2 shared Anne PueliD· 1 shared Avner SchlessingeriD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

Çiğdem Sevim BayrakORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GeneticsbioRxivPreprintJan 1, 2021

Identification of Discriminative Gene-level and Protein-level Features Associated with Gain-of-Function and Loss-of-Function Mutations

Çiğdem Sevim Bayrak, Aayushee Jain, David F. Stein…·Yuval Itan

The paper identifies gene- and protein-level features distinguishing gain-of-function and loss-of-function mutations using NLP and machine learning on a new database of pathogenic mutations.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky

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

𝕏 PostBluesky