Negligible impact of rare autoimmune-locus coding-region variants on missing heritability (Q30415780)

18 August 2017

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

1 reference

18 August 2017

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Christopher G. Mathew

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PubMed publication ID

21 June 2017

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PubMed publication ID

21 June 2017

0 references

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James C Lee

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Yong Kong

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Oliver Burren

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Michael A Simpson

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Charles A Mein

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Francesca Capon

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Jeffrey C Barrett

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Neil M Walker

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David A van Heel

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Jonathan N Barker

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Richard C Trembath

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Alastair Compston

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18 August 2017

John A Todd

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18 August 2017

Jack Satsangi

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18 August 2017

Stephen S Rich

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18 August 2017

Nicholas A Bockett

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18 August 2017

Sarah Nutland

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18 August 2017

Matthew J Simmonds

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18 August 2017

Karen A Hunt

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18 August 2017

Luke Jostins

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18 August 2017

Vanisha Mistry

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18 August 2017

Tariq Ahmad

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18 August 2017

Maria Ban

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18 August 2017

Oliver Brand

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18 August 2017

Stephen C L Gough

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18 August 2017

Monkol Lek

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18 August 2017

Daniel G MacArthur

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18 August 2017

John C Mansfield

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18 August 2017

Muddassar Mirza

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18 August 2017

Efterpi Papouli

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18 August 2017

Miles Parkes

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18 August 2017

Steven Sawcer

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18 August 2017

Eva Wozniak

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18 August 2017

language of work or name

English

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publication date

22 May 2013

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18 August 2017

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18 August 2017

498

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18 August 2017

7453

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18 August 2017

232-235

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Neutrophil recruitment and function in health and inflammation

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Finding the sources of missing heritability in a yeast cross

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Seven newly identified loci for autoimmune thyroid disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

A systematic survey of loss-of-function variants in human protein-coding genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Rare and common variants: twenty arguments

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Rare variants create synthetic genome-wide associations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Finding the missing heritability of complex diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736321

Computational neuroanatomy of speech production.

20 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12170

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12170

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/10.1038%2FNATURE12170

Btrim: a fast, lightweight adapter and quality trimming program for next-generation sequencing technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12170

21 January 2018

Identifiers

DOI

10.1038/NATURE12170

1 reference

18 August 2017

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18 August 2017

PubMed publication ID

23698362

1 reference