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 q-bio.GNShow all
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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…
q-bio.GN2013★ 3 cited
BayMeth: Improved DNA methylation quantification for affinity capture sequencing data using a flexible Bayesian approach
Andrea Riebler, Mirco Menigatti, Jenny Z. Song +6
DNA methylation (DNAme) is a critical component of the epigenetic regulatory machinery and aberrations in DNAme patterns occur in many diseases, such as cancer. Mapping and underst…