(Q28711804)

Andrew O M Wilkie

6

0 references

David N. Cooper

David N Cooper

2

0 references

Michael Krawczak

3

Michael Krawczak

0 references

Ruth F. Chadwick

8

Ruth Chadwick

0 references

author name string

Angus J Clarke

1

0 references

Helen M Wallace

5

0 references

Frances Lucy Raymond

7

0 references

Nick Craddock

9

0 references

Ros John

10

0 references

John Gallacher

11

0 references

Mathias Chiano

Creative Commons Attribution 2.0 Generic

12

0 references

language of work or name

English

0 references

publication date

2 August 2012

0 references

1 reference

6

0 references

issue

1

0 references

page(s)

11

0 references

copyright license

start time

2 August 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Clinical assessment incorporating a personal genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Targeted capture and massively parallel sequencing of 12 human exomes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Fundamental concepts in genetics: Effective population size and patterns of molecular evolution and variation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Large recurrent microdeletions associated with schizophrenia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

From genetic privacy to open consent

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

The distribution of fitness effects of new mutations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Genome-wide maps of chromatin state in pluripotent and lineage-committed cells

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

High-resolution profiling of histone methylations in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

A model of gene-gene and gene-environment interactions and its implications for targeting environmental interventions by genotype

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

A bivalent chromatin structure marks key developmental genes in embryonic stem cells

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

The environment and disease: association or causation? 1965.

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Estimate of the mutation rate per nucleotide in humans

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Mapping and analysis of chromatin state dynamics in nine human cell types

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Common SNPs explain a large proportion of the heritability for human height

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

The future of genetic studies of complex human diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

On the allelic spectrum of human disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Epigenetic inheritance at the agouti locus in the mouse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Principles for the post-GWAS functional characterization of cancer risk loci

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Detection and quantification of rare mutations with massively parallel sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Somatic mosaicism in healthy human tissues

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Classic selective sweeps were rare in recent human evolution

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

On the future of genomic data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

A commentary on 'common SNPs explain a large proportion of the heritability for human height' by Yang et al. (2010).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

The Dutch Hunger Winter and the developmental origins of health and disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Comparison of sequencing-based methods to profile DNA methylation and identification of monoallelic epigenetic modifications.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Quantitative comparison of genome-wide DNA methylation mapping technologies.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Consent to 'personal' genomics and privacy. Direct-to-consumer genetic tests and population genome research challenge traditional notions of privacy and consent

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

How culture shaped the human genome: bringing genetics and the human sciences together.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Lessons learnt from large-scale exon re-sequencing of the X chromosome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Using biological networks to search for interacting loci in genome-wide association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

HLA-B*5701 screening for hypersensitivity to abacavir

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

The molecular anatomy of spontaneous germline mutations in human testes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Signatures of adaptive evolution within human non-coding sequence

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Epidemiological evaluation of the use of genetics to improve the predictive value of disease risk factors.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

The Environment and Disease: Association or Causation?

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Applying mouse complex-trait resources to behavioural genetics.

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-6-11

Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-6-11

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-6-11

Achieving online consent to participation in large-scale gene-environment studies: a tangible destination

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-6-11

The behaviors of some heritability estimators in the complete absence of genetic factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-6-11

Treatment-focused DNA testing for newly diagnosed breast cancer patients: some implications for clinical practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-6-11

Are Linkage Analysis and the Collection of Family Data Dead? Prospects for Family Studies in the Age of Genome-Wide Association

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-6-11

Uncovering the total heritability explained by all true susceptibility variants in a genome-wide association study

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Missing heritability: paternal age effect mutations and selfish spermatogonia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500243

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23244462

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased exonic de novo mutation rate in individuals with schizophrenia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23244462

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23244462