Health and population effects of rare gene knockouts in adult humans with related parents (Q34046351)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26940866%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

Health and population effects of rare gene knockouts in adult humans with related parents (English)

1 reference

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9 March 2020

1 reference

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9 March 2020

1 reference

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9 March 2020

1 reference

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9 March 2020

1 reference

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9 March 2020

1 reference

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9 March 2020

1 reference

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9 March 2020

1 reference

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9 March 2020

1 reference

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9 March 2020

1 reference

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9 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26940866%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Anne H O'Donnell-Luria

1 reference

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9 March 2020

Constantinos A Parisinos

1 reference

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9 March 2020

1 reference

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9 March 2020

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9 March 2020

1 reference

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9 March 2020

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9 March 2020

1 reference

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9 March 2020

Eamonn R Maher

1 reference

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9 March 2020

Karen A Hunt

1 reference

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9 March 2020

Christopher L Baker

1 reference

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9 March 2020

Anthony H Barnett

1 reference

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9 March 2020

Chris Bates

1 reference

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9 March 2020

Kristina Giorda

1 reference

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9 March 2020

Christopher J Griffiths

1 reference

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9 March 2020

Harry Hemingway

1 reference

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9 March 2020

M Ann Kelly

1 reference

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9 March 2020

Hajrah A Khawaja

1 reference

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9 March 2020

Monkol Lek

1 reference

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9 March 2020

Kenneth Paigen

1 reference

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9 March 2020

Eamonn Sheridan

1 reference

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9 March 2020

Louise Tee

1 reference

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9 March 2020

Yali Xue

1 reference

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9 March 2020

Michael Schnall-Levin

1 reference

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9 March 2020

Petko M Petkov

1 reference

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9 March 2020

Chris Tyler-Smith

1 reference

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9 March 2020

Daniel G MacArthur

1 reference

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9 March 2020

Richard Durbin

1 reference

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9 March 2020

language of work or name

English

0 references

publication date

3 March 2016

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9 March 2020

1 reference

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9 March 2020

volume

352

1 reference

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9 March 2020

issue

6284

1 reference

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9 March 2020

page(s)

474-477

1 reference

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Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

9 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Stable recombination hotspots in birds

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

The UK10K project identifies rare variants in health and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

The support of human genetic evidence for approved drug indications

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

ClinGen--the Clinical Genome Resource

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Identification of a large set of rare complete human knockouts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

An estimate of the average number of recessive lethal mutations carried by humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Integrative analysis of 111 reference human epigenomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

DNA recombination. Recombination initiation maps of individual human genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Using latent class analysis to develop a model of the relationship between socioeconomic position and ethnicity: cross-sectional analyses from a multi-ethnic birth cohort study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Distribution and medical impact of loss-of-function variants in the Finnish founder population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Toward better understanding of artifacts in variant calling from high-coverage samples

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Genetic recombination is targeted towards gene promoter regions in dogs.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Meiotic recombination in mammals: localization and regulation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Implications of comorbidity for primary care costs in the UK: a retrospective observational study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

An integrated map of genetic variation from 1,092 human genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Cohort Profile: the Born in Bradford multi-ethnic family cohort study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Genetic recombination is directed away from functional genomic elements in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Combining global and local measures for structure-based druggability predictions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

5 July 2018

1 reference

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

5 July 2018

1 reference

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Natural genetic variation caused by small insertions and deletions in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Prdm9 controls activation of mammalian recombination hotspots

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

The applicability of measures of socioeconomic position to different ethnic groups within the UK.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Born in Bradford, a cohort study of babies born in Bradford, and their parents: protocol for the recruitment phase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Mapping short DNA sequencing reads and calling variants using mapping quality scores

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Null mutations in human and mouse orthologs frequently result in different phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

AN ESTIMATE OF THE MUTATIONAL DAMAGE IN MAN FROM DATA ON CONSANGUINEOUS MARRIAGES

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

A histone H3 methyltransferase controls epigenetic events required for meiotic prophase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

A fine-scale map of recombination rates and hotspots across the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

Gene ontology: tool for the unification of biology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

The costs of human inbreeding and their implications for variations at the DNA level

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

On consanguineous marriages and the genetic load

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4985238

A low genomic number of recessive lethals in natural populations of bluefin killifish and zebrafish.

5 July 2018

1 reference

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Molecular biology. Putting the breaks on meiosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC8624

Fine-scale recombination rate differences between sexes, populations and individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC8624

Socioeconomic status in health research: one size does not fit all.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC8624

A common sequence motif associated with recombination hot spots and genome instability in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC8624

High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAC8624

Replication of 13 genome-wide association (GWA)-validated risk variants for type 2 diabetes in Pakistani populations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26940866

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

GP funding formula masks major inequalities for practices in deprived areas

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26940866

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26940866

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCIENCE.AAC8624

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26940866%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26940866%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

PubMed publication ID

26940866

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26940866%20AND%20SRC:MED&resulttype=core&format=json