Genetic variation in an individual human exome (Q21145035)

17 August 2022

4

Timothy B Stockwell

Timothy B

Stockwell

1 reference

17 August 2022

2

Samuel Levy

Samuel

Levy

1 reference

17 August 2022

7

Nelson Axelrod

Nelson

Axelrod

1 reference

17 August 2022

Pauline C Ng

1

Pauline C

Ng

1 reference

17 August 2022

Jiaqi Huang

3

Jiaqi

Huang

1 reference

17 August 2022

Brian P Walenz

5

Brian P

Walenz

1 reference

17 August 2022

Kelvin Li

6

Kelvin

Li

1 reference

17 August 2022

Dana A Busam

8

Dana A

Busam

1 reference

17 August 2022

Robert L Strausberg

9

Robert L

Strausberg

1 reference

Creative Commons Attribution 4.0 International

17 August 2022

publication date

2008

0 references

language of work or name

0 references

0 references

4

0 references

issue

8

0 references

page(s)

e1000160

0 references

copyright license

start time

15 August 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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The diploid genome sequence of an individual human

19 March 2017

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

19 March 2017

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Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis

19 March 2017

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A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

19 March 2017

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The personal genome project

19 March 2017

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A haplotype map of the human genome

19 March 2017

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

19 March 2017

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Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination

19 March 2017

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Initial sequencing and analysis of the human genome

19 March 2017

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dbSNP: the NCBI database of genetic variation

19 March 2017

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The human chitotriosidase gene. Nature of inherited enzyme deficiency

19 March 2017

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Molecular characterization of the human peroxisomal branched-chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidence for the absence of the protein in Zellweger syndrome

19 March 2017

1 reference

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The complete genome of an individual by massively parallel DNA sequencing

19 March 2017

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Initial sequence of the chimpanzee genome and comparison with the human genome

19 March 2017

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Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

19 March 2017

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Genome sequence of the Brown Norway rat yields insights into mammalian evolution

19 March 2017

1 reference

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Initial sequencing and comparative analysis of the mouse genome

19 March 2017

1 reference

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The Sequence of the Human Genome

19 March 2017

1 reference

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The genomic landscapes of human breast and colorectal cancers

19 March 2017

1 reference

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Tandem repeats finder: a program to analyze DNA sequences

19 March 2017

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Letting the genome out of the bottle--will we get our wish?

19 March 2017

1 reference

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Multiplex amplification of large sets of human exons

19 March 2017

1 reference

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Genomics: the personal side of genomics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Predicting the effects of amino acid substitutions on protein function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Gene polymorphism in Netherton and common atopic disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

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

19 March 2017

1 reference

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Characterization of single-nucleotide polymorphisms in coding regions of human genes

19 March 2017

1 reference

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Profound biotinidase deficiency in two asymptomatic adults

19 March 2017

1 reference

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Evolutionary Rate at the Molecular Level

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

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A greedy algorithm for aligning DNA sequences

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

A common variant on chromosome 9p21 affects the risk of myocardial infarction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Natural selection on protein-coding genes in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Genome-wide association studies for common diseases and complex traits

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex 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=2493042

The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

The Ka/Ks ratio: diagnosing the form of sequence evolution

7 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

7 April 2017

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

SSAHA: a fast search method for large DNA databases

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Prediction of deleterious human alleles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Direct selection of human genomic loci by microarray hybridization

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Melanoma biology and new targeted therapy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Automating resequencing-based detection of insertion-deletion polymorphisms

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

An initial map of insertion and deletion (INDEL) variation in the human genome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Gene prioritization through genomic data fusion

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

SNPs3D: candidate gene and SNP selection for association studies.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Gene-environment interactions in human diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Pattern of sequence variation across 213 environmental response genes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Functional classification of proteins and protein variants.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Characterization of evolutionary rates and constraints in three Mammalian genomes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

A population threshold for functional polymorphisms

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Natural variation in human membrane transporter genes reveals evolutionary and functional constraints

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Quality and completeness of SNP databases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Molecular mechanisms for genomic disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

The sense of smell: genomics of vertebrate odorant receptors

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Association of genes to genetically inherited diseases using data mining

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Haplotype variation and linkage disequilibrium in 313 human genes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

When can a risk factor be used as a worthwhile screening test?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Accounting for human polymorphisms predicted to affect protein function

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Microarray-based genomic selection for high-throughput resequencing

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

Genome-wide evaluation of the public SNP databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

ASHG Statement* on Direct-to-Consumer Genetic Testing in the United States

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

Conserved noncoding sequences are selectively constrained and not mutation cold spots

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

Information content of individual genetic sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

Illness-specific association of val66met BDNF polymorphism with performance on Wisconsin Card Sorting Test in bipolar mood disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

Effect of the BDNF V166M polymorphism on working memory in healthy adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

No evidence for an association between the BDNF Val66Met polymorphism and schizophrenia or personality traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

Polymorphisms in SPINK5 are not associated with asthma in a Dutch population

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

Functional Variant of Manganese Superoxide Dismutase (SOD2 V16A) Polymorphism Is Associated with Prostate Cancer Risk in the Prostate, Lung, Colorectal, and Ovarian Cancer Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000160

Genomics. On your mark. Get set. Sequence!

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

Human Gene Mutation Database (HGMD): 2003 update

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2493042

An analysis of strategies for discovery of single-nucleotide polymorphisms

29 November 2018

1 reference

12 December 2020

Duplicate genes and robustness to transient gene knock-downs in Caenorhabditis elegans

1 reference

12 December 2020

Enrichment of super-sized resequencing targets from the human genome

1 reference

12 December 2020

Is the most frequent allele the oldest?

1 reference

12 December 2020

The new genomics: global views of biology

1 reference

12 December 2020

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

1 reference

12 December 2020

Population genetics--making sense out of sequence

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1000160

Identifiers

DOI

1 reference

release_dbchav3mhre6pja22hcx2ncjaa

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1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dbchav3mhre6pja22hcx2ncjaa

24 November 2022

mapped directly with Wikidata item

1 reference

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1 reference