Author

Heather Angus‐Leppan

Royal Free London NHS Foundation TrustORCID 0000-0001-7004-3848Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aditi Chawla· 1 shared Ana Lisa Taylor TavaresiD· 1 shared Andrew David MumfordiD· 1 shared Anette E. SchragiD· 1 shared Angela Douglas· 1 shared Anna C. NeediD· 1 shared Antonio Rueda Martin· 1 shared Arianna TucciiD· 1 shared

Activity by Year

2020-2020 · 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 paperGenomics

Aditi Chawla

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

GenomicsbioRxivPreprintNov 6, 2020

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Kristina Ibáñez, James M. Polke, Tanner Hagelstrom…·Arianna Tucci

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

6 citations

humanwhole-genome sequencing

𝕏 PostBluesky