Alona Sosinsky

Genomics England — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

38h-index6.3kcitations103works23.62yr avg
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Research Topics

Cancer Genomics and Diagnostics(35), Genomics and Rare Diseases(19), Genetic factors in colorectal cancer(18), Genomics and Chromatin Dynamics(9), RNA and protein synthesis mechanisms(8)

Publications94 total

Clinical potential of whole-genome data linked to mortality statistics in patients with breast cancer in the UK: a retrospective analysis
The Lancet Oncology·2025· 3 citedOpen Access
Equity in cancer genomics in the UK: a cross-sectional analysis of a national cancer cohort
The Lancet Oncology·2025· 2 citedOpen Access
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing
Nature Methods·2025· 10 citedOpen Access
The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas
Gastric Cancer·2025· 3 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
Disparities in cancer genomics by ancestry in the 100,000 Genomes Project
2024Open 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
Genomic landscape of adult testicular germ cell tumours in the 100,000 Genomes Project
Nature Communications·2024· 15 citedOpen Access
SAVANA: reliable analysis of somatic structural variants and copy number aberrations in clinical samples using long-read sequencing
2024· 1 citedOpen Access
The genomic landscape of 2,023 colorectal cancers
Nature·2024· 123 citedOpen Access
SAVANA: reliable analysis of somatic structural variants and copy number aberrations in clinical samples using long-read sequencing
2024· 11 citedOpen Access
Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma
British Journal of Cancer·2024· 12 citedOpen Access
Computational validation of clonal and subclonal copy number alterations from bulk tumor sequencing using CNAqc
Genome biology·2024· 11 citedOpen Access
Clinical application of tumour-in-normal contamination assessment from whole genome sequencing
Nature Communications·2024· 6 citedOpen Access
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 citedOpen Access
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
Nature Medicine·2024· 148 citedOpen Access
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Gastroenterology·2023· 6 citedOpen Access
Routine Whole Genome Sequencing Offers a More Comprehensive Assessment of IG/TCR Gene Rearrangements for MRD Targets in Acute Lymphoblastic Leukemia - Data from the First 62 Cases from the NHS England Genomic Medicine Service
Blood·2023Open Access
A novel likely pathogenic CLCN5 variant in Dent’s disease
BMC Nephrology·2023· 3 citedOpen Access
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Frequent Co-authors

Nirupa Murugaesu(36), D. Perez-Gil(35), Angela Hamblin(34), J. Pullinger(34), Marta Bleda(33), Tim Hubbard(33), Melis Kayikci(33), Loukas Moutsianas(32), Christine Patch(32), T. Rahim(32), K. Savage(32), Richard H. Scott(32), Afshan Siddiq(32), A. Sieghart(32), Mark J. Caulfield(32), F. Boardman-Pretty(31), Augusto Rendon(31), John C. Ambrose(31), S. E. A. Leigh(30), F. Maleady-Crowe(30)