Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors (Q30724946)

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Language	Label	Description	Also known as
English	Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors	scientific article

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

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software design

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based on heuristic

inferred from title

1

object named as

Casper Shyr

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Andre W Kushniruk

2

object named as

Andre Kushniruk

1 reference

Europe PubMed Central

15 August 2017

PMC publication ID

author name string

Casper Shyr

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Clara D M van Karnebeek

3

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Europe PubMed Central

PMC publication ID

15 August 2017

Wyeth W Wasserman

4

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Europe PubMed Central

PMC publication ID

15 August 2017

publication date

27 June 2015

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Europe PubMed Central

PMC publication ID

15 August 2017

Journal of the American Medical Informatics Association

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Europe PubMed Central

PMC publication ID

15 August 2017

23

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

257-268

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

copyright license

Creative Commons Attribution-NonCommercial 4.0 International

24 November 2016

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April 2022 Public Data File from Crossref

copyright status

0 references

Rethinking radiology informatics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Quality of radiologists' communication with other clinicians--As experienced by radiologists

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Whole-genome haplotyping approaches and genomic medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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Prioritization of potential candidate disease genes by topological similarity of protein-protein interaction network and phenotype data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Bioinformatics for clinical next generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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The UCSC Genome Browser database: 2015 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

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The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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14 July 2018

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1 reference

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

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1 reference

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1 reference

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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1 reference

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1 reference

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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1 reference

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1 reference

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Health information systems.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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1 reference

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1 reference

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1 reference

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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A survey of tools for variant analysis of next-generation genome sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Next-generation sequencing in the clinic: promises and challenges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Clinical decision support for genetically guided personalized medicine: a systematic review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Génie: literature-based gene prioritization at multi genomic scale

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

Online social networking issues within academia and pharmacy education

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

A framework for evaluating usability of clinical monitoring technology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

14 July 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

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1 reference

https://api.crossref.org/works/10.1093%2FJAMIA%2FOCV053

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1 reference

https://api.crossref.org/works/10.1093%2FJAMIA%2FOCV053

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1 reference

https://api.crossref.org/works/10.1093%2FJAMIA%2FOCV053

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1 reference

https://api.crossref.org/works/10.1093%2FJAMIA%2FOCV053

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1 reference

https://api.crossref.org/works/10.1093%2FJAMIA%2FOCV053

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1 reference

https://api.crossref.org/works/10.1093%2FJAMIA%2FOCV053

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1 reference

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4784553

25 November 2018

Qualitative content analysis: a guide to paths not taken

1 reference

https://pubmed.ncbi.nlm.nih.gov/26117142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhancing clinical decision making: development of a contiguous definition and conceptual framework

1 reference

https://pubmed.ncbi.nlm.nih.gov/26117142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patient-tailored workflow patterns from clinical practice guidelines recommendations

1 reference

https://pubmed.ncbi.nlm.nih.gov/26117142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical genetics: exomes in the clinic

1 reference

https://pubmed.ncbi.nlm.nih.gov/26117142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic clinical genome and exome sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/26117142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Realizing the potential of genomics: translation is not translational research

1 reference

https://pubmed.ncbi.nlm.nih.gov/26117142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

KEGG-PATH: Kyoto encyclopedia of genes and genomes-based pathway analysis using a path analysis model

1 reference

https://pubmed.ncbi.nlm.nih.gov/26117142

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/JAMIA/OCV053

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

DBLP publication ID

journals/jamia/ShyrKKW16

1 reference

DBLP Dataset 2021-01-02

28 January 2021

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

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