(Q37660240)

21 August 2017

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title

dbSNP in the detail and copy number complexities (English)

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21 August 2017

Ian N M Day

1

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21 August 2017

publication date

1 January 2010

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21 August 2017

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21 August 2017

volume

31

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21 August 2017

issue

1

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21 August 2017

page(s)

2-4

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Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

21 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

A highly annotated whole-genome sequence of a Korean individual

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

The diploid genome sequence of an individual human

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

Sequencing errors or SNPs at splice-acceptor guanines in dbSNP?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

Negligible validation rate for public domain stop-codon SNPs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

Use of molecular variation in the NCBI dbSNP database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

dbSNP: the NCBI database of genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

Rapid whole-genome mutational profiling using next-generation sequencing technologies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

The complete genome of an individual by massively parallel DNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21149

7 January 2021

Identifiers

DOI

10.1002/HUMU.21149

1 reference

21 August 2017

1 reference