A probabilistic disease-gene finder for personal genomes. (Q35195981)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21700766%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

A probabilistic disease-gene finder for personal genomes (English)

1 reference

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5 February 2020

6

1 reference

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5 February 2020

7

Lynn B Jorde

1 reference

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5 February 2020

2

Chad Huff

1 reference

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5 February 2020

5

Barry Moore

1 reference

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5 February 2020

1

Mark Yandell

1 reference

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5 February 2020

author name string

Hao Hu

series ordinal

3

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5 February 2020

Marc Singleton

series ordinal

4

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5 February 2020

Martin G Reese

series ordinal

8

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5 February 2020

publication date

23 June 2011

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5 February 2020

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5 February 2020

volume

21

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5 February 2020

issue

9

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5 February 2020

page(s)

1529-1542

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A map of human genome variation from population-scale sequencing

5 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions

13 July 2018

1 reference

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The characterization of twenty sequenced human genomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

A standard variation file format for human genome sequences

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Exome sequencing identifies the cause of a mendelian disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Finding the missing heritability of complex diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

A groupwise association test for rare mutations using a weighted sum statistic

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Genetic mapping in human disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Predicting the effects of amino acid substitutions on protein function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Comparison of type I error for multiple test corrections in large single-nucleotide polymorphism studies using principal components versus haplotype blocking algorithms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Prediction of deleterious human alleles

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Genie--gene finding in Drosophila melanogaster

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Prediction of complete gene structures in human genomic DNA

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Basic local alignment search tool

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Amino acid substitution matrices from protein blocks

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3166837

Cohort studies and the genetics of complex disease

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21700766

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.123158.111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21700766%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

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5 February 2020

PubMed publication ID

21700766

1 reference