Author

Nicholas Simon Thomas

Salisbury District HospitalORCID 0000-0002-1494-2467Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 5 Research Focus:differential expression· 4 Approach:statistical model· 4 Research Focus:variant effect prediction· 3 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1

Frequent Co-Authors

Diana BaralleiD· 4 shared Jenny LordiD· 3 shared Ana Lisa Taylor TavaresiD· 2 shared Andrew G. L. DouglasiD· 2 shared Anne O’Donnell‐LuriaiD· 2 shared David Hunt· 2 shared David J. BunyaniD· 2 shared Eleanor G. SeabyiD· 2 shared

Activity by Year

2020-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Diana BaralleORCID

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Author profile →

5 papers

Recent·Most cited

A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project

Eleanor G. Seaby, Gary Leggatt, Guo Cheng, Nicholas Simon Thomas, James John Ashton, Imogen S. Stafford, Diana Baralle, Heidi L. Rehm, Anne O’Donnell‐Luria, Sarah Ennis, John C. Ambrose, Prabhu Arumugam, Roel P. J. Bevers, Marta Bleda, F. Boardman-Pretty, , Magdalena Zarowiecki

GenePy identifies potential missed biallelic diagnoses in the 100KGP by scoring variants and analyzing phenotypic overlaps, finding 14% of undiagnosed participants may have a missed diagnosis.

Genetics in Medicine · Jan 18, 2024Peer-reviewedGenetic & Genomic Medicine

RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders

Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I Rich, David J. Bunyan, Nicholas Simon Thomas, David Hunt, Jenny Lord, Andrew G. L. Douglas, Diana Baralle

This study uses RNA-sequencing to identify novel diagnoses in Mendelian disorders by detecting aberrant splicing and expression abnormalities, particularly in patients without candidate sequence variants.

medRxiv · Jul 5, 2023 · PreprintGenetic & Genomic Medicine

A panel-agnostic strategy "HiPPo" improves diagnostic efficiency in the UK Genome Medicine Service

Eleanor G. Seaby, Nicholas Simon Thomas, David Hunt, Diana Baralle, Heidi L. Rehm, Anne O’Donnell‐Luria, Sarah Ennis

The paper compares a panel-agnostic variant filtering approach (HiPPo) with a gene panel-based strategy in exome and genome data from NHS patients, finding HiPPo identifies more diagnostic variants with fewer assessments.

medRxiv · Jan 31, 2023 · PreprintGenetic & Genomic Medicine

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

High-throughput PRPF31 variant characterisation pipeline consistent with ACMG/AMP clinical variant interpretation guidelines

Liliya Nazlamova, Nicholas Simon Thomas, Man‐Kim Cheung, Jelmer Legebeke, Jenny Lord, Reuben J. Pengelly, William Tapper, Gabrielle Wheway

This paper presents a high-throughput imaging assay for characterizing PRPF31 missense variants using CRISPR-edited cells, providing evidence for variant classification.

Human Genetics · Oct 23, 2020Peer-reviewedGenetic & Genomic Medicine