(Q36198251)

12 August 2017

Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms (English)

1 reference

single-nucleotide polymorphism

12 August 2017

1 reference

12

Eric Boerwinkle

0 references

Nora L. Nock

object named as

Nora L Nock

8

0 references

Joanne M Murabito

object named as

Joanne M Murabito

19

0 references

Jerome I Rotter

13

object named as

Jerome I Rotter

1 reference

12 August 2017

11

Ellen W Demerath

1 reference

12 August 2017

15

Kari E North

1 reference

12 August 2017

9

Nora Franceschini

1 reference

12 August 2017

14

James G Wilson

1 reference

12 August 2017

17

L Adrienne Cupples

1 reference

12 August 2017

20

Joel N Hirschhorn

1 reference

12 August 2017

4

Leslie A Lange

1 reference

12 August 2017

Charleston W K Chiang

1

1 reference

12 August 2017

Ching-Ti Liu

2

1 reference

12 August 2017

Guillaume Lettre

3

1 reference

12 August 2017

Neal W Jorgensen

5

1 reference

12 August 2017

Brendan J Keating

6

1 reference

12 August 2017

Sailaja Vedantam

7

1 reference

12 August 2017

Alex P Reiner

10

1 reference

12 August 2017

George J Papanicolaou

16

1 reference

12 August 2017

Genetic Investigation of ANthropometric Traits Consortium

18

1 reference

12 August 2017

language of work or name

English

0 references

publication date

19 June 2012

1 reference

12 August 2017

14

1 reference

based on heuristic

inferred from page(s)

published in

Genetics

1 reference

12 August 2017

192

1 reference

12 August 2017

1

1 reference

12 August 2017

253-266

1 reference

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

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Hundreds of variants clustered in genomic loci and biological pathways affect human height

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Candidate gene association resource (CARe): design, methods, and proof of concept

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

GWAF: an R package for genome-wide association analyses with family data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

The UCSC Genome Browser database: update 2010

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Detection of nonneutral substitution rates on mammalian phylogenies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Colloquium papers: Heritability of reproductive fitness traits in a human population

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Many sequence variants affecting diversity of adult human height

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Ultraconservation identifies a small subset of extremely constrained developmental enhancers

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

A second generation human haplotype map of over 3.1 million SNPs

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Deletion of ultraconserved elements yields viable mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Human genome ultraconserved elements are ultraselected

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Correlation of intergenerational family sizes suggests a genetic component of reproductive fitness

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

The strength of selection on ultraconserved elements in the human genome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

In vivo enhancer analysis of human conserved non-coding sequences

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Principal components analysis corrects for stratification in genome-wide association studies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Genome-wide association studies for common diseases and complex traits

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Highly conserved non-coding sequences are associated with vertebrate development

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Ultraconserved Elements in the Human Genome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Fitness benefits of prolonged post-reproductive lifespan in women

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Probability of detection of genotyping errors and mutations as inheritance inconsistencies in nuclear-family data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

A transmission/disequilibrium test that allows for genotyping errors in the analysis of single-nucleotide polymorphism data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Genomic control for association studies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Ancient duplicated conserved noncoding elements in vertebrates: a genomic and functional analysis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Identification and characterization of new long conserved noncoding sequences in vertebrates.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Human longevity: the grandmother effect.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Large-Scale Appearance of Ultraconserved Elements in Tetrapod Genomes and Slowdown of the Molecular Clock

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Conserved noncoding sequences are selectively constrained and not mutation cold spots

5 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Demonstrating stratification in a European American population

5 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430540

Is the polycystic ovary syndrome associated with chronic inflammation per se?

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22714408

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1534/GENETICS.112.141945

1 reference

release_w6o4fenhmrec5moknrxzlhxfom

12 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/w6o4fenhmrec5moknrxzlhxfom

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

12 August 2017

PubMed publication ID

22714408

1 reference