267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation (Q28392698)

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Luz Garcia-Alonso

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Alejandro Aleman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Juan Antonio Rodríguez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Josephine T Daub

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Gerard Muntané

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Javier Santoyo-Lopez

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

20

Arcadi Navarro

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1

Joaquín Dopazo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Marta Bleda

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Francisco García-García

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Antonio Rueda

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Alicia Vela-Boza

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Francisco J López-Domingo

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Javier P Florido

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Pablo Arce

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Macarena Ruiz-Ferrer

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Cristina Méndez-Vidal

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Todd E Arnold

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Olivia Spleiss

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Miguel Alvarez-Tejado

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Shomi S Bhattacharya

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Salud Borrego

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Guillermo Antiñolo

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

Molecular Biology and Evolution

10 June 2020

language of work or name

English

0 references

publication date

May 2016

0 references

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

1205-1218

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countries, 1990-2013: quantifying the epidemiological transition

10 June 2020

cites work

1 reference

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20 March 2017

Cancer genome landscapes

1 reference

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Analysis of variation at transcription factor binding sites in Drosophila and humans

20 March 2017

1 reference

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InterPro in 2011: new developments in the family and domain prediction database

20 March 2017

1 reference

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20 March 2017

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A map of human genome variation from population-scale sequencing

20 March 2017

1 reference

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 March 2017

1 reference

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Exome sequencing identifies the cause of a mendelian disorder

20 March 2017

1 reference

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The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

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SHRiMP: accurate mapping of short color-space reads

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Genes mirror geography within Europe

20 March 2017

1 reference

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Natural selection has driven population differentiation in modern humans

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

A note on exact tests of Hardy-Weinberg equilibrium

20 March 2017

1 reference

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dbSNP: the NCBI database of genetic variation

20 March 2017

1 reference

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Primer3 on the WWW for general users and for biologist programmers

20 March 2017

1 reference

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Adaptive protein evolution at the Adh locus in Drosophila

20 March 2017

1 reference

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The Genome of the Netherlands: design, and project goals

20 March 2017

1 reference

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Genomic signatures of diet-related shifts during human origins

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Evolutionary adaptations to dietary changes

20 March 2017

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 March 2017

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 April 2017

1 reference

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7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

A systematic survey of loss-of-function variants in human protein-coding genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Exome sequencing as a tool for Mendelian disease gene discovery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

The variant call format and VCFtools

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

UniProt Knowledgebase: a hub of integrated protein data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

FatiGO: a web tool for finding significant associations of Gene Ontology terms with groups of genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Babelomics 5.0: functional interpretation for new generations of genomic data.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

The role of the interactome in the maintenance of deleterious variability in 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=4839216

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing 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=4839216

Natural selection and infectious disease in 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=4839216

Extreme population differences in the human zinc transporter ZIP4 (SLC39A4) are explained by positive selection in Sub-Saharan Africa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Pathways systematically associated to Hirschsprung's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Reconstructing the population genetic history of the Caribbean.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

The impact of natural selection on health and disease: uses of the population genetics approach in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

High trans-ethnic replicability of GWAS results implies common causal 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=4839216

Genomics and transcriptomics in drug discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Sequencing studies in human genetics: design and interpretation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Analysis of the genetic basis of disease in the context of worldwide human relationships and migration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Lessons from the cancer genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Deep whole-genome sequencing of 100 southeast Asian Malays

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding 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=4839216

A high-performance computing toolset for relatedness and principal component analysis of SNP 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=4839216

A map of human microRNA variation uncovers unexpectedly high levels of variability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

A population approach to precision medicine

29 September 2017

1 reference

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SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update).

29 September 2017

1 reference

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The functional spectrum of low-frequency coding variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Ensembl BioMarts: a hub for data retrieval across taxonomic space

29 September 2017

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29 September 2017

Genomics for the world

1 reference

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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=4839216

Robust relationship inference 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=4839216

Loss-of-function variants in the genomes of healthy humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

29 September 2017

1 reference

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Proportionally more deleterious genetic variation in European than in African 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=4839216

29 September 2017

THE HARDY-WEINBERG LAW.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Most rare missense alleles are deleterious in humans: implications for complex disease and 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=4839216

Positive selection, relaxation, and acceleration in the evolution of the human and chimp genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Adaptive protein evolution in Drosophila

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Recent explosive human population growth has resulted in an excess of rare genetic 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=4839216

Differential confounding of rare and common variants in spatially structured populations

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839216

Evidence for polygenic adaptation to pathogens in the human genome

2 June 2018

1 reference

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An integrated encyclopedia of DNA elements in the human genome

21 January 2018

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https://api.crossref.org/works/10.1093%2FMOLBEV%2FMSW005

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

21 January 2018

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Predictive, personalized, preventive, participatory (P4) cancer medicine.

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLBEV%2FMSW005

ESTIMATING F-STATISTICS FOR THE ANALYSIS OF POPULATION STRUCTURE.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26764160

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/MOLBEV/MSW005

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26764160%20AND%20SRC:MED&resulttype=core&format=json