(Q37363150)

19 August 2017

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine (English)

1 reference

19 August 2017

whole genome sequencing

1 reference

16

Alexander F Wilson

1 reference

19 August 2017

NISC Comparative Sequencing Program

14

object named as

NISC Comparative Sequencing Program

1 reference

19 August 2017

1

Leslie G Biesecker

1 reference

19 August 2017

24

Eric D Green

1 reference

19 August 2017

2

James C Mullikin

1 reference

19 August 2017

Teri A Manolio

15

0 references

Andrew E Arai

19

object named as

Andrew Arai

1 reference

19 August 2017

8

Peter S Chines

1 reference

19 August 2017

4

Clesson Turner

1 reference

19 August 2017

23

Richard O Cannon

1 reference

19 August 2017

20

Alan T Remaley

1 reference

19 August 2017

5

Praveen F Cherukuri

1 reference

19 August 2017

7

Gerard G Bouffard

1 reference

19 August 2017

12

Baishali Maskeri

1 reference

19 August 2017

Flavia M Facio

3

1 reference

19 August 2017

Robert W Blakesley

6

1 reference

19 August 2017

Pedro Cruz

9

1 reference

19 August 2017

Nancy F Hansen

10

1 reference

19 August 2017

Jamie K Teer

11

1 reference

19 August 2017

Alice C Young

13

1 reference

19 August 2017

Toren Finkel

17

1 reference

19 August 2017

Paul Hwang

18

1 reference

19 August 2017

Vandana Sachdev

21

1 reference

19 August 2017

Robert Shamburek

22

1 reference

19 August 2017

language of work or name

1 reference

14 July 2009

1 reference

19 August 2017

1 reference

19 August 2017

19

1 reference

19 August 2017

1665-1674

1 reference

19 August 2017

9

1 reference

Massively parallel exon capture and library-free resequencing across 16 genomes

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

The diploid genome sequence of an Asian individual

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Accurate whole human genome sequencing using reversible terminator chemistry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

A HapMap harvest of insights into the genetics of common disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

The complete genome of an individual by massively parallel DNA sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

The impact of next-generation sequencing technology on genetics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

A second generation human haplotype map of over 3.1 million SNPs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

The diploid genome sequence of an individual human

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Mechanisms of disease: genetic causes of familial hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

LRP6 mutation in a family with early coronary disease and metabolic risk factors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Automating resequencing-based detection of insertion-deletion polymorphisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Angiopoietin-like protein 4 converts lipoprotein lipase to inactive monomers and modulates lipase activity in adipose tissue

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Automating sequence-based detection and genotyping of SNPs from diploid samples

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Finishing the euchromatic sequence of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

SIFT: Predicting amino acid changes that affect protein function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Disclosure of the right of research participants to receive research results: an analysis of consent forms in the Children's Oncology Group.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Human non-synonymous SNPs: server and survey

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Initial sequencing and analysis of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Prediction of Coronary Heart Disease Using Risk Factor Categories

6 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

6 September 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Consed: a graphical tool for sequence finishing

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Base-calling of automated sequencer traces using phred. II. Error probabilities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

Genetic architecture of inter-individual variability in apolipoprotein, lipoprotein and lipid phenotypes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752125

14 September 2017

Identifiers

DOI

10.1101/GR.092841.109

1 reference

19 August 2017

1 reference

19 August 2017

1 reference