(Q35722160)

9 August 2017

title

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

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9 August 2017

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whole genome sequencing

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22

David Schlessinger

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Serena Sanna

26

Serena Sanna

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Eleonora Porcu

2

Eleonora Porcu

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Antonella Mulas

8

Antonella Mulas

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Magdalena Zoledziewska

9

Magdalena Zoledziewska

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9 August 2017

Maristella Pitzalis

16

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Carlo Sidore

Carlo Sidore

4

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Sandra Lai

Sandra Lai

12

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Maristella Steri

Maristella Steri

5

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Andrea Angius

Andrea Angius

20

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Francesco Cucca

Francesco Cucca

24

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Hyun-Mi Kang

18

Hyun M Kang

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9 August 2017

23

Matt McGue

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9 August 2017

21

William G Iacono

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9 August 2017

25

Gonçalo R Abecasis

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9 August 2017

3

Scott I Vrieze

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9 August 2017

1

Giorgio Pistis

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9 August 2017

7

Fabio Busonero

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9 August 2017

Fabrice Danjou

6

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9 August 2017

Andrea Maschio

10

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9 August 2017

Christine Brennan

11

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9 August 2017

Michael B Miller

13

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9 August 2017

Marco Marcelli

14

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9 August 2017

Maria Francesca Urru

15

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9 August 2017

Robert H Lyons

17

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9 August 2017

Chris M Jones

19

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9 August 2017

publication date

8 October 2014

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European Journal of Human Genetics

9 August 2017

published in

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9 August 2017

volume

23

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9 August 2017

issue

7

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9 August 2017

page(s)

975-983

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

9 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Rare nonsynonymous exonic variants in addiction and behavioral disinhibition

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Genetic variants regulating immune cell levels in health and disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Imputation-based genomic coverage assessments of current human genotyping arrays

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Genotype imputation in genome-wide association studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

The impact of improved microarray coverage and larger sample sizes on future genome-wide association studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

The Minnesota Center for Twin and Family Research genome-wide association study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

The variant call format and VCFtools

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Promise and pitfalls of the Immunochip

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Genotype imputation for genome-wide association studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

A new multipoint method for genome-wide association studies by imputation of genotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Minnesota Center for Twin and Family Research

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Heritability of cardiovascular and personality traits in 6,148 Sardinians

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

Improved whole-chromosome phasing for disease and population genetic studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

HAPGEN2: simulation of multiple disease SNPs

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4463504

25 September 2018

Identifiers

DOI

10.1038/EJHG.2014.216

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Dimensions Publication ID

9 August 2017

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9 August 2017

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