Author

Lynn Greenhalgh

Liverpool Womens NHS Foundation Trust

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Ana Lisa Taylor TavaresiD· 2 shared Aditi Chawla· 1 shared Alexander J. M. BlakesiD· 1 shared Amanda PichiniiD· 1 shared Andrew David MumfordiD· 1 shared Andrew G. L. DouglasiD· 1 shared Anette E. SchragiD· 1 shared Angela Douglas· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ana Lisa Taylor TavaresORCID

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Author profile →

2 papers

Recent·Most cited

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, Nicholas Simon Thomas, Christine Pamela Burren, Lynn Greenhalgh, Melissa M. Lees, Amanda Pichini, Sarah Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, , Jenny Lord

This study analyzes splicing variants in whole-genome sequencing data to identify new diagnoses in rare diseases.

Genome Medicine · Jul 26, 2022Peer-reviewedGenetic & Genomic Medicine

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Kristina Ibáñez, James M. Polke, Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Thomas, Louise C. Daugherty, Dalia Kasperavičiūtė, Ellen M. McDonagh, Katherine R. Smith, Antonio Rueda Martin, Dimitris Polychronopoulos, Heather Angus‐Leppan, Kailash P. Bhatia, James E. Davison, , 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.

bioRxiv · Nov 6, 2020 · PreprintGenomics