Pavlos Antoniou

Hansa Road, Hardwick Industrial Estate
King's Lynn, ENG PE304JE, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

WxS-QC-a quality control pipeline for human germline short-variant Whole-Genome and Whole-Exome cohorts for population-scale analyses.

WxS-QC-a quality control pipeline for human germline short-variant Whole-Genome and Whole-Exome cohorts for population-scale analyses.

Journal: Bioinformatics (Oxford, England)

Published: December 01, 2025

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Journal: Genes

Published: September 05, 2025

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.

Journal: NPJ genomic medicine

Published: March 03, 2025

Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.

Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.

Journal: Nature genetics

Published: April 30, 2021

Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial.

Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial.

Journal: Leukemia

Published: July 25, 2019

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.

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

Published: March 04, 2019

Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.

Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.

Journal: British journal of haematology

Published: January 28, 2018

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

Journal: Cold Spring Harbor molecular case studies

Published: August 30, 2017

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.

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

Published: May 19, 2017

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.

Journal: Cold Spring Harbor molecular case studies

Published: May 11, 2017

Targeted deep sequencing reveals clinically relevant subclonal IgHV rearrangements in chronic lymphocytic leukemia.

Targeted deep sequencing reveals clinically relevant subclonal IgHV rearrangements in chronic lymphocytic leukemia.

Journal: Leukemia

Published: May 17, 2016

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Last Updated: 09/26/2026