(Q34768431)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

A genome-wide comparison of the functional properties of rare and common genetic variants in humans (English)

1 reference

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27 January 2020

5

1 reference

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27 January 2020

8

Kevin V Shianna

1 reference

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27 January 2020

7

Erin L Heinzen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

9

David B Goldstein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

2

Dongliang Ge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

3

Jessica M Maia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Qianqian Zhu

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Mingfu Zhu

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Samuel P Dickson

series ordinal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

language of work or name

English

0 references

publication date

31 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 January 2020

published in

1 reference

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27 January 2020

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

458-468

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

Classic selective sweeps were rare in recent human evolution

27 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

A map of human genome variation from population-scale sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Annotating non-coding regions of the genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

The neutral theory of molecular evolution in the genomic era

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Uncovering the roles of rare variants in common disease through whole-genome sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Genetic heterogeneity in human disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Evolution in health and medicine Sackler colloquium: Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Detection of nonneutral substitution rates on mammalian phylogenies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Finding the missing heritability of complex diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Targeted capture and massively parallel sequencing of 12 human exomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Evolutionary processes acting on candidate cis-regulatory regions in humans inferred from patterns of polymorphism and divergence

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

The Sequence Alignment/Map format and SAMtools

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Fast and accurate short read alignment with Burrows-Wheeler transform

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Histone modifications at human enhancers reflect global cell-type-specific gene expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

A flexible forward simulator for populations subject to selection and demography

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Assessing the evolutionary impact of amino acid mutations in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Proportionally more deleterious genetic variation in European than in African populations.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Ultraconservation identifies a small subset of extremely constrained developmental enhancers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Analysis of sequence conservation at nucleotide resolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Human genome ultraconserved elements are ultraselected

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Widely distributed noncoding purifying selection in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Global variation in copy number in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Genome assembly comparison identifies structural variants in the human genome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

The distribution of fitness effects of new deleterious amino acid mutations in humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

The ENCODE (ENCyclopedia Of DNA Elements) Project

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Ultraconserved Elements in the Human Genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

On estimating the relation between blood group and disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

The human genome browser at UCSC

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Are rare variants responsible for susceptibility to complex diseases?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Segmental duplications: organization and impact within the current human genome project assembly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Tandem repeats finder: a program to analyze DNA sequences

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

High proportions of deleterious polymorphisms in constrained human genes.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

Conserved noncoding sequences are selectively constrained and not mutation cold spots

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071924

10.1016/J.AJHG.2011.03.008

9 December 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457907%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference