Publications

Browse our scientific publications by category below.

Assessing the pathogenicity of in-frame CACNA1F indel variants using structural modelling
PUBLISHED 9 September, 2022
Assessing the pathogenicity of in-frame CACNA1F indel variants using structural modelling
The Journal of Molecular Diagnostics
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Pharmacogenomics: An opportunity for personalised psychotropic prescribing in adults with intellectual disabilities
PUBLISHED 17 August, 2022
Pharmacogenomics: An opportunity for personalised psychotropic prescribing in adults with intellectual disabilities
BJPsych
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Unlocking sociocultural and community factors for the global adoption of genomic medicine
PUBLISHED 12 May, 2022
Unlocking sociocultural and community factors for the global adoption of genomic medicine
Orphanet Journal of Rare Diseases (OJRD)
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Congenica AI + Exomiser Datasheet
PUBLISHED JAN 28th, 2022
Congenica AI + Exomiser Datasheet
Focus on the variants that matter with AI driven variant prioritization
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Congenica AI Validation Study
PUBLISHED JAN 28th, 2022
Congenica AI Validation Study
Efficient interpretation of NGS data with higher diagnostic yields is critical to relieve backlogs of cases, increase sample throughput and improve outcomes.
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
PUBLISHED 15 November, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
The New England Journal of Medicine
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Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity
PUBLISHED July 22nd, 2021
Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity
Medrxiv
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Digital health pioneer Congenica’s DNA tech gets green light for use by doctors
PUBLISHED JUN 21st, 2021
Digital health pioneer Congenica’s DNA tech gets green light for use by doctors
Evening Standard
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Congenica funded to reduce fatal drug interactions by mapping genes
PUBLISHED Jun 18th, 2021
Congenica funded to reduce fatal drug interactions by mapping genes
Business Weekly
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
PUBLISHED 3 June, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
American Journal of Human Genetics
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5 Companies Paving the Way for Personalised Care
PUBLISHED MAY 20th, 2021
5 Companies Paving the Way for Personalised Care
Life Science
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Artificial Intelligence in Personalized Medicine
PUBLISHED MAY 7th, 2021
Artificial Intelligence in Personalized Medicine
Springer
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Clinical OMICs interview with David Atkins CEO Congenica
PUBLISHED MAY 1st, 2021
Clinical OMICs interview with David Atkins CEO Congenica
Clinical OMICS
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Congenica Strikes Asian Distribution Deal With Camtech Diagnostics
PUBLISHED APR 13th, 2021
Congenica Strikes Asian Distribution Deal With Camtech Diagnostics
GenomeWeb
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US influencer partners Congenica in rare disease genomics foray
PUBLISHED MAR 25th, 2021
US influencer partners Congenica in rare disease genomics foray
Business Weekly
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Improving the clinical interpretation of missense variants in X linked genes using structural analysis
PUBLISHED MAR 24th, 2021
Improving the clinical interpretation of missense variants in X linked genes using structural analysis
BMJ
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Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia
PUBLISHED MAR 3rd, 2021
Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia
Science Direct
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Climate change and epilepsy: Insights from clinical and basic science studies
PUBLISHED MAR 1st, 2021
Climate change and epilepsy: Insights from clinical and basic science studies
Epilepsy Behavior
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The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study
PUBLISHED Feb 21st, 2021
The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study
Karger
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Glasgow start-up delivers technology to improve the treatment of cancer
PUBLISHED FEB 1st, 2021
Glasgow start-up delivers technology to improve the treatment of cancer
The Herlad
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Analyze, Interpret and Report NGS Data Faster than Ever
PUBLISHED JAN 19th, 2021
Analyze, Interpret and Report NGS Data Faster than Ever
Reduce complex clinical genomic analysis times from an average of 20 hours to 30 minutes, while increasing diagnostic yield by 30%
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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable
PUBLISHED DEC 16th, 2020
Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable
Epilepsia
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The future of genomics in Ireland – focus on genomics for health
PUBLISHED December 4, 2020
The future of genomics in Ireland – focus on genomics for health
NCBI
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Congenica Closes $50M Series C Funding Round
PUBLISHED NOV 9th, 2020
Congenica Closes $50M Series C Funding Round
GenomeWeb
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
PUBLISHED 4 November, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Genetics in Medicine
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Early-onset autoimmunity associated with SOCS1 haploinsufficiency
PUBLISHED 21 October, 2020
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
Nature Communications
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A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies; a retrospective review
PUBLISHED SEP 27, 2020
A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies; a retrospective review
BJOG, 2020
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Congenica COVID-19™ Datasheet
PUBLISHED SEP 22nd, 2020
Congenica COVID-19™ Datasheet
Host genetic analysis to advance COVID-19 Research
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A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants
PUBLISHED SEP 15, 2020
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants
Human Mutation, 2020
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The future of genomic medicine: can it fulfil its promises?
PUBLISHED 14 September, 2020
The future of genomic medicine: can it fulfil its promises?
pharmaphorum
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A Dual Perspective on Genomic Medicine
PUBLISHED 20 August, 2020
A Dual Perspective on Genomic Medicine
Medics 4 Rare Diseases
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Increasing the value of genomic data with global genomic data consortia
PUBLISHED JULY 30th, 2020
Increasing the value of genomic data with global genomic data consortia
World Economic Forum
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Congenica Automation Datasheet
PUBLISHED JULY 13th, 2020
Congenica Automation Datasheet
Automated classification, annotation, and reporting of known variants
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Congenica Splice Site Finder White Paper
PUBLISHED JULY 8th, 2020
Congenica Splice Site Finder White Paper
Congenica Splice Site Finder was designed as an updated implementation of Splice-Site-Finder that is fully integrated into the Congenica platform.  
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Whole-genome sequencing of patients with rare diseases in a national health system.
PUBLISHED 24 June, 2020
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
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Congenica Prenatal Speeds Research into Fetal Anomalies
PUBLISHED JUNE 5th, 2020
Congenica Prenatal Speeds Research into Fetal Anomalies
Clinical Lab Products  
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Congenica Prenatal Datasheet
PUBLISHED JUNE 2nd, 2020
Congenica Prenatal Datasheet
Identify the molecular cause of fetal anomalies, faster
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Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome
PUBLISHED MAY 22nd, 2020
Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome
Clinical Genetics, 2020
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(Deep) tech will save us
PUBLISHED MAY 19th, 2020
(Deep) tech will save us
Financial Times Adviser
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Using digital platforms to determine genetic susceptibility to COVID-19
PUBLISHED MAY 18th, 2020
Using digital platforms to determine genetic susceptibility to COVID-19
BioTechScope
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Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar
PUBLISHED APRIL 29th, 2020
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar
European Journal of Human Genetics, 2020
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Whole-genome sequencing of patients with rare diseases in a national health system
PUBLISHED JUNE 24th, 2020
Whole-genome sequencing of patients with rare diseases in a national health system
Nature, 2020  
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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability
PUBLISHED APRIL 6th, 2020
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability
European Journal of Human Genetics, 2020
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Early-onset cerebellar ataxia in a patient with CMT2A2
PUBLISHED APRIL 3rd, 2020
Early-onset cerebellar ataxia in a patient with CMT2A2
Molecular Case Studies, 2020
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Congenica Platform Datasheet
PUBLISHED MARCH 7th, 2020
Congenica Platform Datasheet
Improve Diagnostic Yield, Maximize Workflow Efficiency, Increase Confidence
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ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
PUBLISHED MARCH 3rd, 2020
ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
Human Mutation, 2020
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Epilepsy, the unmet needs
PUBLISHED MARCH 1st, 2020
Epilepsy, the unmet needs
How genomic medicine is helping overcome the most pressing unmet needs in epilepsy
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A snapshot of Congenica: PME talks to CEO David Atkins
PUBLISHED JAN 28th, 2020
A snapshot of Congenica: PME talks to CEO David Atkins
PMLiVE  
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Congenica Neuro Datasheet
PUBLISHED JAN 19th, 2020
Congenica Neuro Datasheet
Faster analysis of neurodevelopmental disorders
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Targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
PUBLISHED MARCH 13th, 2020
Targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
BMC Medical Genetics
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Integrated Reference Data
PUBLISHED DEC 19th, 2019
Integrated Reference Data
Congenica integrates a wide range of reference datasets to aid the clinical interpretation of patient NGS data, resulting in a robust workflow
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Diagnosis of fetal abnormalities using exome sequencing: translating research into practice
PUBLISHED DEC 25th, 2019
Diagnosis of fetal abnormalities using exome sequencing: translating research into practice
Ultrasound Obstet Gynecol, 2019
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VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation
PUBLISHED 13 December, 2019
Diagnostic implications of genetic copy number variation in epilepsy plus
National Library of Medicine
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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
PUBLISHED DEC 2nd, 2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
npj Genomic Medicine, 2019
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Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
PUBLISHED NOV 12th, 2019
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
Human Mutation, 2019
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Secondary Analysis Pipelines
PUBLISHED NOV 11th, 2019
Secondary Analysis Pipelines
Congenica secondary pipelines enable you to reduce your investment in technology infrastructure and accelerates your processing times to maximize overall efficiency
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Sentieon DNAseq Whitepaper – Improve Read Mapping & Variant Calling
PUBLISHED OCT 7th, 2019
Sentieon DNAseq Whitepaper - Improve Read Mapping & Variant Calling
Evaluation of Sentieon DNAseq in Congenica demonstrating its accuracy and resource usage when used as a replacement for the bwa/GATK variant calling pipeline
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Congenica, Genomenon Integrate Clinical Decision Support, Genomic Data Software
PUBLISHED OCT 2nd, 2019
Congenica, Genomenon Integrate Clinical Decision Support, Genomic Data Software
GenomeWeb
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Nature Product Focus: Congenica, Advancing Genomic Innovation
PUBLISHED OCT 1st, 2019
Nature Product Focus: Congenica, Advancing Genomic Innovation
Nature
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Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
PUBLISHED 16 September, 2019
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
European Journal of Human Genetics
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CNV Calling for Exomes Whitepaper
PUBLISHED JULY 8th, 2019
CNV Calling for Exomes Whitepaper
Review covering the development, validation and analytical performance of a new copy-number variant (CNV) Calling module released in Congenica
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We are witnessing a revolution in genomics – and it’s only just begun
PUBLISHED JUNE 24th, 2019
We are witnessing a revolution in genomics - and it's only just begun
World Economic Forum
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Life sciences: Catalysing investment and growth investment and growth
PUBLISHED JUNE 1st, 2019
Life sciences: Catalysing investment and growth investment and growth
BIA
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What drives the stand out success of genomics biotech pioneer, Congenica?
PUBLISHED APRIL 30th, 2019
What drives the stand out success of genomics biotech pioneer, Congenica?
Amadeus Capital Partners
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Diagnostic implications of genetic copy number variation in epilepsy plus
PUBLISHED 9 September, 2022
Diagnostic implications of genetic copy number variation in epilepsy plus
Epilepsia
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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Whole-genome sequencing of rare disease patients in a national healthcare system
PUBLISHED FEB 22nd, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Whole-genome sequencing of rare disease patients in a national healthcare system
The Lancet, 2019
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10 European Genomics Companies to Watch Out For
PUBLISHED FEB 18th, 2019
10 European Genomics Companies to Watch Out For
Labiotech
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Congenica primed for challenge of helping to sequence five million genomes in five years
PUBLISHED JAN 2nd, 2019
Congenica primed for challenge of helping to sequence five million genomes in five years
Business Weekly
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Molecular autopsy by trio exome sequencing and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
PUBLISHED OCT 8th, 2018
Molecular autopsy by trio exome sequencing and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
Genetics in Medicine, 2018
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NHS Genomic Medicine Service: the UK seeks to build a global genomic hub
PUBLISHED OCT 4th, 2018
NHS Genomic Medicine Service: the UK seeks to build a global genomic hub
Pharmaceutical Technology
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Matt Hancock announces ambition to map 5 million genomes
PUBLISHED OCT 2nd, 2018
Matt Hancock announces ambition to map 5 million genomes
Gov.uk
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Genomics Explained: A guide to genomics and UK excellence in the field
PUBLISHED OCT 1st, 2018
Genomics Explained: A guide to genomics and UK excellence in the field
BIA
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Interview with David Atkins, CEO Congenica UK
PUBLISHED AUG 30th, 2018
Interview with David Atkins, CEO Congenica UK
Pharma Boardroom  
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Early-onset autoimmunity associated with SOCS1 haploinsufficiency
PUBLISHED OCT 4, 2018
NHS Genomic Medicine Service: the UK seeks to build a global genomic hub
Pharmaceutical Technology
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Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy
PUBLISHED AUG 1st, 2018
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy
Epilepsia, 2018
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Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
PUBLISHED MARCH 29th, 2018
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
Nature, 2018
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Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies
PUBLISHED AUG 1st, 2017
Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies
Annual Review of Genomics and Human Genetics, 2017
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Genome annotation for clinical genomic diagnostics: strengths and weaknesses
PUBLISHED MAY 30th, 2017
Genome annotation for clinical genomic diagnostics: strengths and weaknesses
Genome Medicine, 2017
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Bridging the gap: the need for genomic and clinical -omics data integration and standardization in overcoming the bottleneck of variant interpretation
PUBLISHED JAN 20th, 2017
Bridging the gap: the need for genomic and clinical -omics data integration and standardization in overcoming the bottleneck of variant interpretation
Expert Review of Precision Medicine and Drug Development, 2017
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Congenica: accelerating rare disease diagnosis and treatment
PUBLISHED AUG 19th, 2016
Congenica: accelerating rare disease diagnosis and treatment
Future Medicine
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Medical and Health Genomics – Diagnostic Genomics and Clinical Bioinformatics
PUBLISHED JUN 20th, 2016
Medical and Health Genomics - Diagnostic Genomics and Clinical Bioinformatics
Medical and Health Genomics, 2016
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The Global Challenge of Rare Disease Diagnosis: The benefits of an improved diagnosis journey for patients
PUBLISHED FEB 2, 2016
The Global Challenge of Rare Disease Diagnosis: The benefits of an improved diagnosis journey for patients
Shire
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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
PUBLISHED DEC 1st, 2014
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
The Lancet, 2015
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