(Q28387022)

English

Changing genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships

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scholarly article

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Changing genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Lenore K Beitel

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

Bruce Gottlieb

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Mark Trifiro

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

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publication date

22 May 2014

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

2 references

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1

0 references

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

MicroRNAs and long non-coding RNAs: prospects in diagnostics and therapy of cancer

1 reference

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20 March 2017

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

20 March 2017

Detectable clonal mosaicism and its relationship to aging and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

20 March 2017

Detectable clonal mosaicism from birth to old age and its relationship to cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

20 March 2017

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

20 March 2017

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

20 March 2017

A map of human genome variation from population-scale sequencing

1 reference

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20 March 2017

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

1 reference

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20 March 2017

BAK1 gene variation and abdominal aortic aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

20 March 2017

The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

20 March 2017

The Genotype-Tissue Expression (GTEx) project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

20 March 2017

Bioinformatics tools and database resources for systems genetics analysis in mice--a short review and an evaluation of future needs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

20 March 2017

Clonal evolution in cancer

1 reference

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7 April 2017

Ten years of pathway analysis: current approaches and outstanding challenges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

7 April 2017

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

7 April 2017

Non-coding RNAs: regulators of disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

7 April 2017

'Particle genetics': treating every cell as unique.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Systems genetics approaches to understand complex traits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

The use of mouse models to study epigenetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Distinct evolutionary trajectories of primary high-grade serous ovarian cancers revealed through spatial mutational profiling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Does cancer start in the womb? altered mammary gland development and predisposition to breast cancer due to in utero exposure to endocrine disruptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Genetic Diversity in Normal Cell Populations is the Earliest Stage of Oncogenesis Leading to Intra-Tumor Heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Making sense of intratumor genetic heterogeneity: altered frequency of androgen receptor CAG repeat length variants in breast cancer tissues.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Extensive genetic variation in somatic human tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Detection of ultra-rare mutations by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

RNA-Seq and human complex diseases: recent accomplishments and future perspectives.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

A new approach for detecting low-level mutations in next-generation sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Comment on "Widespread RNA and DNA sequence differences in the human transcriptome".

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Novel insight into the non-coding repertoire through deep sequencing analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

The androgen receptor gene mutations database: 2012 update.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Insight into the heterogeneity of breast cancer through next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Breast cancer - one term, many entities?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Widespread RNA and DNA sequence differences in the human transcriptome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Epigenetic epidemiology of common complex disease: prospects for prediction, prevention, and treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

A survey of genomic traces reveals a common sequencing error, RNA editing, and DNA editing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

The human phenotype ontology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Somatic gene mutation and human disease other than cancer: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Selection and mutation in the "new" genetics: an emerging hypothesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Timing matters: error-prone gap filling and translesion synthesis in immunoglobulin gene hypermutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Protein interactions in human genetic diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Modifier genes in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

29 September 2017

Illusions promote mating success in great bowerbirds.

1 reference

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21 January 2018

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21 January 2018

Incomplete penetrance and variable expressivity: is there a microRNA connection?

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21 January 2018

Comment on "Widespread RNA and DNA sequence differences in the human transcriptome".

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

27 November 2018

Epigenetics as a unifying principle in the aetiology of complex traits and diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040485

27 November 2018

Defining protein interactions that regulate disease progression

1 reference

https://pubmed.ncbi.nlm.nih.gov/24885908

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population

1 reference

https://pubmed.ncbi.nlm.nih.gov/24885908

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comment on "Widespread RNA and DNA sequence differences in the human transcriptome"

1 reference

https://pubmed.ncbi.nlm.nih.gov/24885908

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1479-7364-8-9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

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1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24885908%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

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