An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people (Q43136367)

14 November 2017

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

1 reference

14 November 2017

24

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14 November 2017

25

1 reference

14 November 2017

Dana Fraser

10

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Simon Topp

Simon Topp

21

0 references

John Whittaker

John C Whittaker

28

0 references

Matthew D. Hall

Matthew D Hall

22

0 references

Daniel Wegmann

2

Daniel Wegmann

1 reference

14 November 2017

Matthew R Nelson

1

1 reference

14 November 2017

Margaret G Ehm

3

1 reference

14 November 2017

Darren Kessner

4

1 reference

14 November 2017

Pamela St Jean

5

1 reference

14 November 2017

Claudio Verzilli

6

1 reference

14 November 2017

Judong Shen

7

1 reference

14 November 2017

Zhengzheng Tang

8

1 reference

14 November 2017

Silviu-Alin Bacanu

9

1 reference

14 November 2017

Liling Warren

11

1 reference

14 November 2017

Jennifer Aponte

12

1 reference

14 November 2017

Matthew Zawistowski

13

1 reference

14 November 2017

Xiao Liu

14

1 reference

14 November 2017

Hao Zhang

15

1 reference

14 November 2017

Yong Zhang

16

1 reference

14 November 2017

Jun Li

17

1 reference

14 November 2017

Yun Li

18

1 reference

14 November 2017

Li Li

19

1 reference

14 November 2017

Peter Woollard

20

1 reference

14 November 2017

Keith Nangle

23

1 reference

14 November 2017

Lon R Cardon

26

1 reference

14 November 2017

Sebastian Zöllner

27

1 reference

14 November 2017

Stephanie L Chissoe

29

1 reference

14 November 2017

John Novembre

30

1 reference

14 November 2017

Vincent Mooser

31

1 reference

14 November 2017

language of work or name

English

0 references

publication date

17 May 2012

1 reference

14 November 2017

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14 November 2017

337

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14 November 2017

100-104

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14 November 2017

6090

1 reference

The functional spectrum of low-frequency coding variation

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

25 May 2018

Genomics for the world

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Demographic history and rare allele sharing among human populations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Variation in genome-wide mutation rates within and between human families

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Rare variant association analysis methods for complex traits

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Missing heritability and strategies for finding the underlying causes of complex disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Pooled association tests for rare variants in exon-resequencing studies

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Finding the missing heritability of complex diseases

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Measuring the rates of spontaneous mutation from deep and large-scale polymorphism data

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Correlation between genetic and geographic structure in Europe

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Medical sequencing at the extremes of human body mass

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

The druggable genome: an update

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Simultaneous inference of selection and population growth from patterns of variation in the human genome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Population history and natural selection shape patterns of genetic variation in 132 genes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

25 May 2018

Our load of mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Are rare variants responsible for susceptibility to complex diseases?

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Genetic dissection of complex traits

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Slightly Deleterious Mutant Substitutions in Evolution

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

Gene genealogies when the sample size exceeds the effective size of the population.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319976

A map of human genome variation from population-scale sequencing

15 August 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

The PsyCoLaus study: methodology and characteristics of the sample of a population-based survey on psychiatric disorders and their association with genetic and cardiovascular risk factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Relation between atherogenic dyslipidemia and the Adult Treatment Program-III definition of metabolic syndrome (Genetic Epidemiology of Metabolic Syndrome Project).

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Methods for high-density admixture mapping of disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Population-based linkage analysis of schizophrenia and bipolar case-control cohorts identifies a potential susceptibility locus on 19q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Drug repositioning: identifying and developing new uses for existing drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

The emergence of genome-based drug repositioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

GENCODE: producing a reference annotation for ENCODE

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Gene ontology: tool for the unification of biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

SOAP: short oligonucleotide alignment program

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

SNP detection for massively parallel whole-genome resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Estimating the single nucleotide polymorphism genotype misclassification from routine double measurements in a large epidemiologic sample

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Estimating genotyping error rates from Mendelian errors in SNP array genotypes and their impact on inference.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Human non-synonymous SNPs: server and survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

The Ensembl core software libraries

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Natural selection on genes that underlie human disease susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Loss-of-function variants in the genomes of healthy humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

ADZE: a rarefaction approach for counting alleles private to combinations of populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

On the number of segregating sites in genetical models without recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genomewide comparison of DNA sequences between humans and chimpanzees

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Calibrating a coalescent simulation of human genome sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

fastsimcoal: a continuous-time coalescent simulator of genomic diversity under arbitrarily complex evolutionary scenarios

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

The GENCODE exome: sequencing the complete human exome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

How informative is a negative finding in a small pharmacogenetic study?

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

InterPro: the integrative protein signature database

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Variants in FAM13A are associated with chronic obstructive pulmonary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genome-wide association scan of trait depression

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Risk alleles for multiple sclerosis identified by a genomewide study

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genomewide association for schizophrenia in the CATIE study: results of stage 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Genome-wide association study of recurrent major depressive disorder in two European case–control cohorts

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE)

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1217876

21 January 2018

Identifiers

DOI

10.1126/SCIENCE.1217876

1 reference

14 November 2017

1 reference

14 November 2017

1 reference