Adam Giess

Genomics England — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index4.1kcitations93works15.52yr avg
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Research Topics

Cancer Genomics and Diagnostics(19), RNA and protein synthesis mechanisms(12), Genomics and Rare Diseases(11), Genomics and Phylogenetic Studies(10), RNA modifications and cancer(10)

Publications90 total

SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing
Nature Methods·2025· 10 citedOpen Access
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
Journal of Nephrology·2025Open Access
Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution
Cell·2025· 44 citedOpen Access
Correction: Low Dose Iron Treatments Induce a DNA Damage Response in Human Endothelial Cells within Minutes
PLoS ONE·2024Open Access
Origins and impact of extrachromosomal DNA
Nature·2024· 112 citedOpen Access
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 of Clinical Oncology·2024· 9 citedOpen Access
94P Clinical utility of long read sequencing for comprehensive analysis of cancer patient genomes
ESMO Open·2024Open Access
475P Optimising genomic testing for patients with central nervous system (CNS) tumours using oxford nanopore technology
Annals of Oncology·2024Open Access
SAVANA: reliable analysis of somatic structural variants and copy number aberrations in clinical samples using long-read sequencing
2024· 1 citedOpen Access
SAVANA: reliable analysis of somatic structural variants and copy number aberrations in clinical samples using long-read sequencing
2024· 11 citedOpen Access
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark
Genes·2024· 10 citedOpen Access
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 citedOpen Access
Mechanisms Underpinning Osteosarcoma Genome Complexity and Evolution
SSRN Electronic Journal·2024· 1 citedOpen Access
Mechanisms underpinning osteosarcoma genome complexity and evolution
2023· 3 citedOpen Access
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Gastroenterology·2023· 6 citedOpen Access
Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue
Journal of Translational Medicine·2023· 7 citedOpen Access
Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue
2023Open Access
Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of unexplained severe fatigue
2023Open Access
A novel likely pathogenic CLCN5 variant in Dent’s disease
BMC Nephrology·2023· 3 citedOpen Access
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Kidney International·2023· 33 citedOpen Access
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Frequent Co-authors

Helen Brittain(33), Anna C. Need(33), M. Tanguy(32), D. Perez-Gil(32), Marta Bleda(32), Melis Kayikci(32), Nirupa Murugaesu(32), J. Pullinger(32), Angela Hamblin(31), Tim Hubbard(31), Loukas Moutsianas(31), T. Rahim(31), Dalia Kasperavičiūtė(30), Athanasios Kousathanas(30), Christine Patch(30), K. Savage(30), Richard H. Scott(30), Afshan Siddiq(30), A. Sieghart(30), Alona Sosinsky(30)