Annotating individual human genomes (Q26999723)

Crossref

author name string

Ashley A. Scott-Van Zeeland

series ordinal

2

1 reference

Crossref

language of work or name

1 reference

October 2011

1 reference

1 reference

98

1 reference

issue

4

1 reference

page(s)

233-41

1 reference

A user's guide to the encyclopedia of DNA elements (ENCODE)

cites work

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DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines

21 March 2017

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A map of human genome variation from population-scale sequencing

21 March 2017

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COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

21 March 2017

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Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors

21 March 2017

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Clinical assessment incorporating a personal genome

21 March 2017

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Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

21 March 2017

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

21 March 2017

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Finding the missing heritability of complex diseases

21 March 2017

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Genome-wide QTL mapping for three traits related to teat number in a White Duroc x Erhualian pig resource population

21 March 2017

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Comprehensive genomic characterization defines human glioblastoma genes and core pathways

21 March 2017

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Revealing the architecture of gene regulation: the promise of eQTL studies

21 March 2017

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A genome-wide association study identifies protein quantitative trait loci (pQTLs)

21 March 2017

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Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value

21 March 2017

1 reference

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The NCBI dbGaP database of genotypes and phenotypes

21 March 2017

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The diploid genome sequence of an individual human

21 March 2017

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Genetic prediction of future type 2 diabetes

21 March 2017

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A haplotype map of the human genome

21 March 2017

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The $1,000 genome, the $100,000 analysis?

21 March 2017

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Use of whole-genome sequencing to diagnose a cryptic fusion oncogene

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Analysis of next-generation genomic data in cancer: accomplishments and challenges

21 March 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Genome remodelling in a basal-like breast cancer metastasis and xenograft

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty

21 March 2017

1 reference

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A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications

21 March 2017

1 reference

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Recent and ongoing selection in the human genome

21 March 2017

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Disease-associated mutations that alter the RNA structural ensemble

21 March 2017

1 reference

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Efficient and cost effective population resequencing by pooling and in-solution hybridization

21 March 2017

1 reference

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The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies

21 March 2017

1 reference

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Network medicine: a network-based approach to human disease

21 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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Genetic mapping in human disease

7 April 2017

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A HapMap harvest of insights into the genetics of common disease

7 April 2017

1 reference

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Prediction of deleterious human alleles

7 April 2017

1 reference

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Genetic dissection of complex traits

7 April 2017

1 reference

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Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.

7 April 2017

1 reference

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A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

28 September 2017

1 reference

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

28 September 2017

1 reference

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A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

28 September 2017

1 reference

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Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics

28 September 2017

1 reference

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The importance of phase information for human genomics

28 September 2017

1 reference

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Effect of direct-to-consumer genomewide profiling to assess disease risk

28 September 2017

1 reference

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Identification of causal sequence variants of disease in the next generation sequencing era.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Detecting directional selection in the presence of recent admixture in African-Americans

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

A unifying framework for evaluating the predictive power of genetic variants based on the level of heritability explained

28 September 2017

1 reference

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Graph theory-based measures as predictors of gene morbidity

28 September 2017

1 reference

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Analysing biological pathways in genome-wide association studies

28 September 2017

1 reference

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Statistical analysis strategies for association studies involving rare variants

28 September 2017

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The characterization of twenty sequenced human genomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Annotating non-coding regions of the genome

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease

28 September 2017

1 reference

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Cancer genome analysis informatics

28 September 2017

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

28 September 2017

1 reference

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PACdb: a database for cell-based pharmacogenomics

28 September 2017

1 reference

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The genetic interpretation of area under the ROC curve in genomic profiling

28 September 2017

1 reference

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Mapping allele-specific DNA methylation: a new tool for maximizing information from GWAS.

28 September 2017

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Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study

28 September 2017

1 reference

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A composite of multiple signals distinguishes causal variants in regions of positive selection

28 September 2017

1 reference

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In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

28 September 2017

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The effect of multiple genetic variants in predicting the risk of type 2 diabetes

28 September 2017

1 reference

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Sequence and structure signatures of cancer mutation hotspots in protein kinases

28 September 2017

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The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

28 September 2017

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Alzheimer's disease genetics current status and future perspectives

28 September 2017

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Common vs. rare allele hypotheses for complex diseases

28 September 2017

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Using in silico models to simulate dual perturbation experiments: procedure development and interpretation of outcomes

28 September 2017

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Local DNA topography correlates with functional noncoding regions of the human genome

28 September 2017

1 reference

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Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity

28 September 2017

1 reference

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Mapping complex disease traits with global gene expression

28 September 2017

1 reference

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Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Clinical risk factors, DNA variants, and the development of type 2 diabetes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Genotype score in addition to common risk factors for prediction of type 2 diabetes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Pathway analysis of seven common diseases assessed by genome-wide association

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

UCSC genome browser: deep support for molecular biomedical research

28 September 2017

1 reference

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Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Congenital disease SNPs target lineage specific structural elements in protein kinases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Predicting functional regulatory polymorphisms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Walking the interactome for prioritization of candidate disease genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Prediction of cancer driver mutations in protein kinases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Estimating local ancestry in admixed populations

28 September 2017

1 reference

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Mammalian evolution and biomedicine: new views from phylogeny

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

In silico analysis of SNPs and other high-throughput data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Online resources for SNP analysis: a review and route map.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Mendelian Inheritance in Man and its online version, OMIM

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

DataBiNS: a BioMoby-based data-mining workflow for biological pathways and non-synonymous SNPs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Combining information from common type 2 diabetes risk polymorphisms improves disease prediction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Concordance of functional in vitro data and epidemiological associations in complex disease genetics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

28 September 2017

Systems biology of SNPs

1 reference

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PharmGKB: the pharmacogenetics and pharmacogenomics knowledge base

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Gene-environment interactions in human diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

WebQTL: web-based complex trait analysis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Inference of locus-specific ancestry in closely related populations

28 September 2017

1 reference

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The next phase in human genetics

31 May 2018

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The UCSC genome browser: what every molecular biologist should know.

28 November 2018

1 reference

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Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Accurate prediction of deleterious protein kinase polymorphisms

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Medline search engine for finding genetic markers with biological significance

28 November 2018

1 reference

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In vitro assays fail to predict in vivo effects of regulatory polymorphisms

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Knowledge-based prediction of DNA atomic structure from nucleic sequence.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

Prediction of atomic structure from sequence for double helical DNA oligomers.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074010

An open access database of genome-wide association results

28 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YGENO.2011.07.006

10.1016/J.YGENO.2011.07.006

7 January 2021

Identifiers

DOI

0 references

1 reference

PubMed publication ID

21839162

1 reference