(Q34346566)

1 August 2017

title

Patient-controlled encrypted genomic data: an approach to advance clinical genomics (English)

1 reference

1 August 2017

0 references

1 reference

Yannis J Trakadis

1

1 reference

1 August 2017

publication date

20 July 2012

1 reference

1 August 2017

1 reference

1 August 2017

volume

5

1 reference

1 August 2017

page(s)

31

1 reference

https://scigraph.springernature.com/pub.10.1186/1755-8794-5-31

1 August 2017

exact match

0 references

cites work

Family-based association studies for next-generation sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Stitching together multiple data dimensions reveals interacting metabolomic and transcriptomic networks that modulate cell regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Association analysis of 94 candidate genes and schizophrenia-related endophenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Exome sequencing as a tool for Mendelian disease gene discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Protein interactome reveals converging molecular pathways among autism disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Family-based designs for genome-wide association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

SVA: software for annotating and visualizing sequenced human genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

From eugenics to patents: genetics, law, and human rights

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

The human serum metabolome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Charting a course for genomic medicine from base pairs to bedside

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

MutaDATABASE: a centralized and standardized DNA variation database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

A map of human genome variation from population-scale sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

A practical approach to detect unique metabolic patterns for personalized medicine

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Epigenome Mapping in Normal and Disease States

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Integration of metabolomics and transcriptomics data to aid biomarker discovery in type 2 diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

GeneMesh: a web-based microarray analysis tool for relating differentially expressed genes to MeSH terms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Understanding mechanisms underlying human gene expression variation with RNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Transcriptome genetics using second generation sequencing in a Caucasian population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Gene--environment-wide association studies: emerging approaches

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Personal genome sequencing: current approaches and challenges

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Ethical implications of the use of whole genome methods in medical research

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

A new strategy for linkage analysis under epistasis taking into account genetic heterogeneity.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Detecting gene-gene interactions that underlie human diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Database resources in metabolomics: an overview

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Letting the genome out of the bottle--will we get our wish?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Research ethics and the challenge of whole-genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Medicine. The future of personal genomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

The diploid genome sequence of an individual human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Schizophrenia: disease, syndrome, or dimensions?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Integration of bioinformatics resources for functional analysis of gene expression and proteomic data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

The genetics of schizophrenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Gene-environment interactions in human diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

The future of gene therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Cascade effects of medical technology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Implementing a unified approach to family-based tests of association.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

When can a risk factor be used as a worthwhile screening test?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Nontraditional epidemiologic approaches in the analysis of gene-environment interaction: case-control studies with no controls!

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Concordance rates of insulin dependent diabetes mellitus: a population based study of young Danish twins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Principles and practice of mass screening for disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

The fate and future of patents on human genes and genetic diagnostic methods.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Personalized genomic information: preparing for the future of genetic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Two adaptive weighting methods to test for rare variant associations in family-based designs

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Personal phenotypes to go with personal genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Candidate gene association analysis for a quantitative trait, using parent-offspring trios.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Personalized medicine: are we there yet?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Generic Consent for Genetic Screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Downsizing genomic medicine: approaching the ethical complexity of whole-genome sequencing by starting small

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Medicine. Reestablishing the researcher-patient compact.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Intellectual property. Enhanced: intellectual property landscape of the human genome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439266

Performance of mutation pathogenicity prediction methods on missense variants

27 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Genome sequencing: the third generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-5-31

Personalized medicine in the era of genomics

21 January 2018

1 reference

12 December 2020

Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem

1 reference

12 December 2020

Biomarkers unbound--the Supreme Court's ruling on diagnostic-test patents

1 reference

12 December 2020

[Syndromic and diagnostic heterogeneity of schizophrenia]

1 reference

12 December 2020

Challenges in the clinical application of whole-genome sequencing

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Educating health-care professionals about genetics and genomics

1 reference

12 December 2020

The genome gets personal--almost

1 reference

12 December 2020

The limitations of risk factors as prognostic tools

1 reference

12 December 2020

Identifiers

DOI

10.1186/1755-8794-5-31

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference