(Q36547873)

English

Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

scientific article published on 19 November 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1 reference

based on heuristic

inferred from title

whole genome sequencing

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based on heuristic

inferred from title

Diether Lambrechts

14

object named as

Diether Lambrechts

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Europe PubMed Central

PMC publication ID

14 August 2017

author name string

Andrew Stubbs

1

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Europe PubMed Central

PMC publication ID

14 August 2017

Elizabeth A McClellan

2

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Europe PubMed Central

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14 August 2017

Sebastiaan Horsman

3

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Saskia D Hiltemann

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Ivo Palli

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Stephan Nouwens

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Anton Hj Koning

7

1 reference

Europe PubMed Central

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14 August 2017

Frits Hoogland

8

1 reference

Europe PubMed Central

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14 August 2017

Joke Reumers

9

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Europe PubMed Central

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14 August 2017

Daphne Heijsman

10

1 reference

Europe PubMed Central

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14 August 2017

Sigrid Swagemakers

11

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14 August 2017

Andreas Kremer

12

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Europe PubMed Central

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14 August 2017

Jules Meijerink

13

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14 August 2017

Peter J van der Spek

15

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Europe PubMed Central

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14 August 2017

publication date

19 November 2012

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Europe PubMed Central

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14 August 2017

Journal of clinical bioinformatics

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14 August 2017

2

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Europe PubMed Central

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14 August 2017

1

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14 August 2017

19

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14 August 2017

https://scigraph.springernature.com/pub.10.1186/2043-9113-2-19

0 references

Exome sequencing generates high quality data in non-target regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

NGS catalog: A database of next generation sequencing studies in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

On the future of genetic risk assessment

1 reference

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30 September 2017

Performance comparison of exome DNA sequencing technologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

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Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

1 reference

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30 September 2017

ENGINES: exploring single nucleotide variation in entire human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

1 reference

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30 September 2017

Finding the missing heritability of complex diseases

1 reference

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30 September 2017

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

BioMart--biological queries made easy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

AWclust: point-and-click software for non-parametric population structure analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

dbSNP: the NCBI database of genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549785

30 September 2017

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

1 reference

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28 June 2018

Computational techniques for human genome resequencing using mated gapped reads

1 reference

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21 September 2018

Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

1 reference

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21 September 2018

Identifiers

10.1186/2043-9113-2-19

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

DBLP publication ID

journals/jclinbioinf/StubbsMHHPNKHRHSKMLS12

1 reference

DBLP Dataset 2021-01-02

28 January 2021

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

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