718 citations
Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.
- The University of SydneyAU4 papers
- UNSW SydneyAU4 papers
- Massachusetts General HospitalUS3 papers
- Boston Children's HospitalUS2 papers
- Gopalganj Science and Technology UniversityBD2 papers
- Harvard UniversityUS2 papers
- Jatiya Kabi Kazi Nazrul Islam UniversityBD2 papers
- St Vincent's ClinicAU2 papers
- The University of QueenslandAU2 papers
- University of CambridgeGB2 papers
- Aarhus University HospitalDK1 paper
- Ain Shams University HospitalEG1 paper
Showing 2021Show all
2 papers · 1 filter
q-bio.GN2021★ 718 cited
Variant interpretation using population databases: lessons from gnomAD
Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A. Watts +7
Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variati…
physics.ins-det2021★ 9 cited
Particle detection and tracking with DNA
Ciaran A. J. O'Hare, Vassili G. Matsos, Joseph Newton +8
We present the first proof-of-concept simulations of detectors using biomaterials to detect particle interactions. The essential idea behind a "DNA detector" involves the attachmen…