Author

Natalie Nowak

The University of SydneyORCID 0000-0001-7259-394XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandra ButtersiD· 1 shared Alicia B. ByrneiD· 1 shared Anne RonaniD· 1 shared Christopher SemsarianiD· 1 shared Colleen A. CaleshuiD· 1 shared Daniel G. MacArthuriD· 1 shared Francesca HarringtoniD· 1 shared Ian Hayes· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

1 shared paperGenetic & Genomic Medicine

Alexandra ButtersORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 8, 2024

A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets

Alexandra Butters, Kate L. Thomson, Francesca Harrington…·Jodie Ingles

The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky