(Q38227463)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25005607%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

How important are rare variants in common disease? (English)

1 reference

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9 March 2020

2

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9 March 2020

author name string

Aude Saint Pierre

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25005607%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

publication date

8 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25005607%20AND%20SRC:MED&resulttype=core&format=json

Briefings in functional genomics

9 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25005607%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

volume

13

1 reference

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9 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25005607%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

page(s)

353-361

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25005607%20AND%20SRC:MED&resulttype=core&format=json

On the allelic spectrum of human disease

9 March 2020

cites work

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Genomewide association studies and assessment of the risk of disease

21 January 2018

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Genome-wide association studies and type 2 diabetes

21 January 2018

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Finding the missing heritability of complex diseases

21 January 2018

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Common SNPs explain a large proportion of the heritability for human height

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Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

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Human genetic variation and its contribution to complex traits

21 January 2018

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Evolutionary evidence of the effect of rare variants on disease etiology

21 January 2018

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Common and rare variants in multifactorial susceptibility to common diseases

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Uncovering the roles of rare variants in common disease through whole-genome sequencing

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Clan genomics and the complex architecture of human disease

21 January 2018

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Searching for missing heritability: designing rare variant association studies

21 January 2018

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The distribution of rare alleles.

21 January 2018

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Structural variation in the human genome

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

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Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

21 January 2018

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Common vs. rare allele hypotheses for complex diseases

21 January 2018

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Are rare variants responsible for susceptibility to complex diseases?

21 January 2018

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The allelic architecture of human disease genes: common disease-common variant... or not?

21 January 2018

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Population genetics models of common diseases

21 January 2018

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Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes

21 January 2018

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Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

21 January 2018

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Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

21 January 2018

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

21 January 2018

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Demographic history and rare allele sharing among human populations

21 January 2018

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Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data

21 January 2018

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Deep resequencing reveals excess rare recent variants consistent with explosive population growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

Neutral genomic regions refine models of recent rapid human population growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

Recent explosive human population growth has resulted in an excess of rare genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

21 January 2018

1 reference

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Rare variants create synthetic genome-wide associations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

Sequence kernel association tests for the combined effect of rare and common variants

21 January 2018

1 reference

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A polygenic burden of rare disruptive mutations in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes

21 January 2018

1 reference

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Evaluating empirical bounds on complex disease genetic architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

Will formal genetics become dispensable?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

Are Linkage Analysis and the Collection of Family Data Dead? Prospects for Family Studies in the Age of Genome-Wide Association

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBFGP%2FELU025

21 January 2018

Identifiers

DOI

10.1093/BFGP/ELU025

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25005607%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference