(Q34789942)

4 August 2017

title

BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge (English)

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4 August 2017

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1 reference

5

Marylyn D Ritchie

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4 August 2017

4

Sarah A Pendergrass

1 reference

4 August 2017

Carrie B Moore

1

1 reference

4 August 2017

John R Wallace

series ordinal

2

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4 August 2017

Alex T Frase

series ordinal

3

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4 August 2017

publication date

7 May 2013

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4 August 2017

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4 August 2017

volume

6 Suppl 2

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4 August 2017

page(s)

S6

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Creative Commons Attribution 2.0 Generic

4 August 2017

copyright license

start time

1 May 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1755-8794-6-s2-s6

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cites work

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability

8 July 2018

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Rare-variant association testing for sequencing data with the sequence kernel association test

8 July 2018

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8 July 2018

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A new testing strategy to identify rare variants with either risk or protective effect on disease

8 July 2018

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8 July 2018

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Comprehensive approach to analyzing rare genetic variants

8 July 2018

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The BioGRID Interaction Database: 2011 update

8 July 2018

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Reactome: a database of reactions, pathways and biological processes

8 July 2018

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

8 July 2018

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A map of human genome variation from population-scale sequencing

8 July 2018

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A covering method for detecting genetic associations between rare variants and common phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

The UCSC Genome Browser database: update 2011

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Pooled association tests for rare variants in exon-resequencing studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

A data-adaptive sum test for disease association with multiple common or rare variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

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8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Finding the missing heritability of complex diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Discovery of rare variants via sequencing: implications for the design of complex trait association studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

A groupwise association test for rare mutations using a weighted sum statistic

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Power of deep, all-exon resequencing for discovery of human trait genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

ORegAnno: an open-access community-driven resource for regulatory annotation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Forward-time simulations of human populations with complex diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Mutation rate variation in the mammalian genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

Gathering the gold dust: methods for assessing the aggregate impact of small effect genes in genomic scans.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST).

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3654874

10.1186/1755-8794-6-S2-S6

26 October 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

4 August 2017

0 references

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4 August 2017

1 reference