Author

Andrew P. Hannaford

Concord Repatriation General HospitalORCID 0009-0005-3500-4460Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Research Focus:benchmarking· 1 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1

Frequent Co-Authors

Kishore Raj KumariD· 2 shared Abhishek Malhotra· 1 shared Aleena Eldo· 1 shared Andre L. M. ReisiD· 1 shared Andrew J. MartiniD· 1 shared Anna HackettiD· 1 shared Anne RonaniD· 1 shared Chloe Stutterd· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 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 papersGenetic & Genomic Medicine

Kishore Raj KumarORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineAnnals of Clinical and Translational NeurologyPeer-reviewedFeb 25, 2025

Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders

Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow…·Kishore Raj Kumar

This paper demonstrates that targeted long-read sequencing improves genetic diagnosis of spastic-ataxia disorders by identifying causative variants in 41% of undiagnosed cases using a single assay.

13 citationstop 4%

humanlong-read sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJul 8, 2024

Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

Haloom Rafehi, Liam G. Fearnley, Justin L. Read…·Paul J. Lockhart

This study compares short-read and long-read sequencing for diagnosing cerebellar ataxia, finding both effective but with different strengths in repeat expansion detection.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky