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List of works by Anthony J Brookes

A 129-kb deletion on chromosome 12 confers substantial protection against rheumatoid arthritis, implicating the gene SLC2A3.

scientific article published on 02 December 2013

A P3G generic access agreement for population genomic studies

scientific article (publication date: May 2013)

A mechanistic basis for amplification differences between samples and between genome regions

scientific article

A quality assessment survey of SNP genotyping laboratories

Addendum: The FAIR Guiding Principles for scientific data management and stewardship

article by Mark D Wilkinson et al published 19 March 2019 in Scientific Data

An informatics project and online “Knowledge Centre” supporting modern genotype-to-phenotype research ⬇️

scientific article published on March 22, 2011

Applying ontologies and exploring nanopublishing in a genome-wide association study database

scholarly article by Tim Beck et al published 2012 in Proceedings of the 4th International Workshop on Semantic Web Applications and Tools for the Life Sciences - SWAT4LS '11

Association of ADRB1 and UCP3 Gene Polymorphisms with Insulin Sensitivity but Not Obesity

article

Association of arthritis with a gene complex encoding C-type lectin-like receptors

scientific article

Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation

scientific article published on 6 June 2013

Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond

scientific article published on 17 March 2022

Blood and sputum eosinophils in COPD; relationship with bacterial load.

scientific article

Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts

scientific article

Characteristics and longitudinal progression of chronic obstructive pulmonary disease in GOLD B patients

scientific article published on 20 February 2017

Clarity and claims in variation/mutation databasing

scientific article published on 8 September 2011

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society

scientific article published on 21 August 2016

Common conditions of use elements. Atomic concepts for consistent and effective information governance

scientific article published on 8 May 2024

Common variants of ACE contribute to variable age-at-onset of Alzheimer’s disease

scientific article published on 17 February 2004

Complex SNP-related sequence variation in segmental genome duplications

scientific article

Consent Codes: Upholding Standard Data Use Conditions

scientific article

Data Safe Havens in health research and healthcare

scientific article

Discovery, scoring and utilization of human single nucleotide polymorphisms: a multidisciplinary problem

Effect of oligonucleotide truncation on single-nucleotide distinction by solid-phase hybridization

scientific article published in 2002

European Prevention of Alzheimer's Dementia Registry: Recruitment and prescreening approach for a longitudinal cohort and prevention trials

scientific article published on 28 March 2018

Federated discovery and sharing of genomic data using Beacons

scientific article published on 01 March 2019

Finding and sharing: new approaches to registries of databases and services for the biomedical sciences

scientific article

Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease

scientific article published in January 2003

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

GENETICS. The Human Variome Project

scientific article

GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies

scientific article

GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies

scientific article published on 01 January 2020

Genetic association analysis: lessons from the study of Alzheimers disease

scientific article

Genetic structures of copy number variants revealed by genotyping single sperm

scientific article published on 22 April 2009

Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism

scientific article published in April 2004

Genetic variation in CTNNA3 encoding alpha-3 catenin and Alzheimer's disease

scientific article published in April 2004

Genetic variation in a haplotype block spanningIDE influences Alzheimer disease ⬇️

scientific article published on November 1, 2003

Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

scientific article published on July 2009

Genotype-phenotype databases: challenges and solutions for the post-genomic era.

scientific article

Germline & somatic mosaicism: the 2014 annual scientific meeting of the Human Genome Variation Society

scientific article published in March 2015

Getting your DUCs in a row - standardising the representation of Digital Use Conditions

scientific article published on 8 May 2024

HGV2009 meeting: bigger and better studies provide more answers and more questions

scientific article published on July 2010

HGV2011: personalized genomic medicine meets the incidentalome

scientific article published on 17 January 2012

HGV2012: leveraging next-generation technology and large datasets to advance disease research

scientific article published on April 2013

HGVbaseG2P: a central genetic association database

scientific article

Haplotype block structures show significant variation among populations

scientific article published on 01 December 2004

Haplotypes extending across ACE are associated with Alzheimer's disease

scientific article published in April 2003

Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis

scientific article published in February 2007

Human genotype-phenotype databases: aims, challenges and opportunities

scientific article

Human neuropeptide Y signal peptide gain-of-function polymorphism is associated with increased body mass index: possible mode of function

scientific article

Identity in research infrastructure and scientific communication: Report from the 1st IRISC workshop, Helsinki Sep 12-13, 2011

Identity in research infrastructure and scientific communication: Report from the 1st IRISC workshop, Helsinki Sep 12-13, 2011

Integrative annotation of 21,037 human genes validated by full-length cDNA clones

scientific article

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

scientific article published on May 2017

Knowledge engineering for health: a new discipline required to bridge the "ICT gap" between research and healthcare

scientific article published on 04 April 2012

Legacy data sharing to improve drug safety assessment: the eTOX project

scientific article published on 13 October 2017

Linkage disequilibrium patterns vary substantially among populations

scientific article

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

scientific article

Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use.

scientific article

Longitudinal memory performance during normal aging: twin association models of APOE and other Alzheimer candidate genes

scientific article published on 10 January 2006

Lower rate of genomic variation identified in the trans-membrane domain of monoamine sub-class of Human G-Protein Coupled Receptors: the Human GPCR-DB Database

scientific article

MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction

scientific journal article

MegaPlex PCR: a strategy for multiplex amplification.

scientific article

Mutation screening of a haplotype block around the insulin degrading enzyme gene and association with Alzheimer's disease

scientific article

Negligible validation rate for public domain stop-codon SNPs

scientific article published on 01 September 2003

New technologies for DNA analysis--a review of the READNA Project

scientific article

Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection

scientific article

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

scientific article published on 4 April 2012

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

scientific article published on 21 January 2016

Point Mutations (Thr240Arg and Ala311Stop) in theParkinGene

article

Prepublication data sharing

scientific article

Prescreening for European Prevention of Alzheimer Dementia (EPAD) trial-ready cohort: impact of AD risk factors and recruitment settings

scientific article published on 06 January 2020

Publisher Correction: Federated discovery and sharing of genomic data using Beacons

scientific article published on 01 April 2019

Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-beta 1-42 and plasma apolipoprotein levels

scientific article published on 22 December 2005

Quantitative trait loci near the insulin-degrading enzyme (IDE) gene contribute to variation in plasma insulin levels

scientific article

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

Registered access: authorizing data access

scientific article published on 2 August 2018

Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M)

SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report

scientific article (publication date: 25 April 2008)

SNiPpets from the Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis, September 8-11, 2000, Taos, New Mexico, USA

article published in 2001

Semantically enabling a genome-wide association study database

scientific article (publication date: 17 December 2012)

Sequence variants of IDE are associated with the extent of beta-amyloid deposition in the Alzheimer's disease brain

scientific article published in June 2005

Sequence variation in the proximity of IDE may impact age at onset of both Parkinson disease and Alzheimer disease

scientific article

Seventh international meeting on single nucleotide polymorphism and complex genome analysis: 'ever bigger scans and an increasingly variable genome'.

scientific article

Simplifying research access to genomics and health data with Library Cards

scientific article published on 14 March 2018

Single nucleotide polymorphisms in the proximal promoter region of the adiponectin (APM1) gene are associated with type 2 diabetes in Swedish caucasians

scientific article

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

scientific article published on 01 June 2021

Solving bottlenecks in data sharing in the life sciences

scientific article

Sputum microbiome temporal variability and dysbiosis in chronic obstructive pulmonary disease exacerbations: an analysis of the COPDMAP study.

scientific article

Systems medicine and integrated care to combat chronic noncommunicable diseases

scientific article

Targeted enrichment of genomic DNA regions for next-generation sequencing ⬇️

scientific article published on November 26, 2011

The BioMart community portal: an innovative alternative to large, centralized data repositories

scientific article (publication date: July 2015)

The FAIR Guiding Principles for scientific data management and stewardship

scientific article (publication date: 15 March 2016)

The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

scientific article published in March 2010

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

scientific article

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation

scientific article

The sputum microbiome is distinct between COPD and health, independent of smoking history

scientific article published on 14 July 2020

Toward a roadmap in global biobanking for health

scientific article (publication date: November 2012)

Towards compendia of negative genetic association studies: an example for Alzheimer disease

scientific article published on 8 December 2005

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.

scientific article published on October 2017

Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease

scientific article published on 18 March 2004

VarioML framework for comprehensive variation data representation and exchange

scientific article (publication date: 3 October 2012)

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