Greg S. Elgar

One Canada Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 37 publications

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Journal: medRxiv : the preprint server for health sciences

Published: April 03, 2026

Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.

Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.

Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Published: October 31, 2024

Clinical utility of 'Shaken' biopsies for whole-genome sequencing.

Clinical utility of 'Shaken' biopsies for whole-genome sequencing.

Journal: Journal of clinical pathology

Published: August 27, 2024

SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing.

SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing.

Journal: Nature methods

Published: August 06, 2024

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

Journal: Genes

Published: June 04, 2024

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.

Journal: Nature communications

Published: April 03, 2024

Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution.

Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution.

Journal: Cell

Published: March 29, 2024

Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue.

Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue.

Journal: Journal of translational medicine

Published: September 04, 2023

Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.

Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.

Journal: Nature

Published: January 09, 2022

Whole-genome sequencing reveals host factors underlying critical COVID-19.

Whole-genome sequencing reveals host factors underlying critical COVID-19.

Journal: Nature

Published: September 02, 2021

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Journal: Brain : a journal of neurology

Published: June 18, 2020

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 13, 2020

Showing 1-12 of 37

Last Updated: 09/26/2026