Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers (Q28267312)

26

0 references

Antonella Mulas

7

0 references

George Dedoussis

29

0 references

Serena Sanna

37

0 references

David Schlessinger

38

0 references

Silvia Naitza

5

0 references

Andrea Maschio

3

0 references

Carlo Sidore

1

0 references

Francesco Cucca

39

0 references

Fabio Busonero

2

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Eleonora Porcu

4

Eleonora Porcu

0 references

Nicole Soranzo

31

Nicole Soranzo

0 references

Magdalena Zoledziewska

6

Magdalena Zoledziewska

0 references

Maristella Pitzalis

Maristella Pitzalis

15

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Maristella Steri

Maristella Steri

9

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Fabrice Danjou

Fabrice Danjou

10

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Christian Fuchsberger

Christian Fuchsberger

20

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Giovanni Malerba

Giovanni Malerba

28

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Andrea Angius

Andrea Angius

34

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Nicholas J. Timpson

Nicholas J Timpson

25

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Diego Ortega-Del Vecchyo

12

Vicente Diego Ortega Del Vecchyo

0 references

Hyun-Mi Kang

35

Hyun M Kang

0 references

author name string

Giorgio Pistis

8

0 references

Alan Kwong

11

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Charleston W K Chiang

13

0 references

Jennifer Bragg-Gresham

14

0 references

Ramaiah Nagaraja

16

0 references

Brendan Tarrier

17

0 references

Christine Brennan

18

0 references

Sergio Uzzau

19

0 references

Rossano Atzeni

21

0 references

Frederic Reinier

22

0 references

Riccardo Berutti

23

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Jie Huang

24

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Chris Jones

32

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Robert Lyons

33

0 references

John Novembre

36

0 references

Gonçalo R Abecasis

40

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Paolo Gasparini

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

27

0 references

language of work or name

English

0 references

publication date

November 2015

0 references

published in

Nature Genetics

0 references

volume

47

0 references

page(s)

1272-81

0 references

issue

11

0 references

cites work

1 reference

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Exome sequencing and complex disease: practical aspects of rare variant association studies

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

20 March 2017

1 reference

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MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

20 March 2017

1 reference

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Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

20 March 2017

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Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes

20 March 2017

1 reference

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Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

20 March 2017

1 reference

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Genes mirror geography within Europe

20 March 2017

1 reference

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Genome-wide association studies for complex traits: consensus, uncertainty and challenges

20 March 2017

1 reference

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Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability

20 March 2017

1 reference

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

20 March 2017

1 reference

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20 March 2017

1 reference

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Mapping the genetic architecture of gene expression in human liver

20 March 2017

1 reference

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Discovery and refinement of loci associated with lipid levels

20 March 2017

1 reference

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Common variants associated with plasma triglycerides and risk for coronary artery disease

20 March 2017

1 reference

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Pooled association tests for rare variants in exon-resequencing studies

20 March 2017

1 reference

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Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

20 March 2017

1 reference

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METAL: fast and efficient meta-analysis of genomewide association scans

20 March 2017

1 reference

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Fast and accurate long-read alignment with Burrows-Wheeler transform

7 April 2017

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A general framework for estimating the relative pathogenicity of human genetic variants

7 April 2017

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Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

LocusZoom: regional visualization of genome-wide association scan results

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

7 April 2017

1 reference

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An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

7 April 2017

1 reference

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Whole-genome sequence-based analysis of thyroid function.

29 September 2017

1 reference

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Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Demography and the age of rare variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Whole-genome sequence variation, population structure and demographic history of the Dutch population

29 September 2017

1 reference

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Searching for missing heritability: designing rare variant association studies

29 September 2017

1 reference

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QPLOT: a quality assessment tool for next generation sequencing data

29 September 2017

1 reference

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Genetic variants regulating immune cell levels in health and disease.

29 September 2017

1 reference

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Genetic insights into common pathways and complex relationships among immune-mediated diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Genome-wide complex trait analysis (GCTA): methods, data analyses, and interpretations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Genotype calling and haplotyping in parent-offspring trios

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

zCall: a rare variant caller for array-based genotyping: genetics and population analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Demographic history and rare allele sharing among human populations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Variance component model to account for sample structure in genome-wide association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627508

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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An integrative approach to characterize disease-specific pathways and their coordination: a case study in cancer

29 September 2017

1 reference

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Discerning the ancestry of European Americans in genetic association studies

29 September 2017

1 reference

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Family-based association tests for genomewide association scans

29 September 2017

1 reference

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Heritability of cardiovascular and personality traits in 6,148 Sardinians

29 September 2017

1 reference

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In silico method for inferring genotypes in pedigrees

29 September 2017

1 reference

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Inflammatory markers and the risk of coronary heart disease in men and women

29 September 2017

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Rationale and design of the LURIC study--a resource for functional genomics, pharmacogenomics and long-term prognosis of cardiovascular disease

29 September 2017

1 reference

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Use of population isolates for mapping complex traits

29 September 2017

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Estimating genome-wide significance for whole-genome sequencing studies

29 September 2017

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Low-coverage sequencing: implications for design of complex trait association studies

2 June 2018

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CONVERGENCE AND PREDICTION OF PRINCIPAL COMPONENT SCORES IN HIGH-DIMENSIONAL SETTINGS.

2 June 2018

1 reference

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Plasma lipids in beta-thalassemia minor

2 June 2018

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Cholesterol fractions and apolipoproteins as risk factors for heart disease mortality in older men.

2 June 2018

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

21 January 2018

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Plasma lipoprotein composition, apolipoprotein(a) concentration and isoforms in beta-thalassemia.

21 January 2018

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Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populations

21 January 2018

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Structural analysis of human CCR2b and primate CCR2b by molecular modeling and molecular dynamics simulation.

21 January 2018

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Arg89Cys substitution results in very low membrane expression of the Duffy antigen/receptor for chemokines in Fy(x) individuals.

21 January 2018

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Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection

27 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/26366554

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Co-regulated transcriptional networks contribute to natural genetic variation in Drosophila sleep

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Analysis of the matrix metalloproteinase family reveals that MMP8 is often mutated in melanoma

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3368

1 reference

Dimensions Publication ID

341855

1019363850

0 references

341855

1 reference

1 reference

1 reference