A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. (Q30823228)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24837662%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

title

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data (English)

1 reference

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18 March 2020

3

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18 March 2020

Vidu Garg

17

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18 March 2020

Jinchuan Xing

13

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18 March 2020

Gustavo Glusman

14

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18 March 2020

23

Lynn B Jorde

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18 March 2020

19

Leroy Hood

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18 March 2020

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Chad D Huff

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18 March 2020

4

Stephen L Guthery

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18 March 2020

12

Shuoguo Wang

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18 March 2020

18

Barry Moore

1 reference

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18 March 2020

24

Mark Yandell

1 reference

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18 March 2020

8

Sean V Tavtigian

1 reference

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18 March 2020

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David J Galas

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18 March 2020

15

Robert Hubley

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18 March 2020

author name string

Hao Hu

1

1 reference

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18 March 2020

Jared C Roach

2

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18 March 2020

Karl V Voelkerding

5

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18 March 2020

Rebecca L Margraf

6

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18 March 2020

Jacob D Durtschi

7

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18 March 2020

Shankaracharya

9

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18 March 2020

Wilfred Wu

10

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18 March 2020

Paul Scheet

11

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18 March 2020

Hong Li

16

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18 March 2020

Deepak Srivastava

21

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18 March 2020

Martin G Reese

22

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18 March 2020

publication date

18 May 2014

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18 March 2020

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18 March 2020

volume

32

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18 March 2020

issue

7

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18 March 2020

page(s)

663-669

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Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon

18 March 2020

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Genetic risk factors in two Utah pedigrees at high risk for suicide

21 June 2018

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21 June 2018

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New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

21 June 2018

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Multiple genetic variant association testing by collapsing and kernel methods with pedigree or population structured data

21 June 2018

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Identification of rare variants from exome sequence in a large pedigree with autism

21 June 2018

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Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome

21 June 2018

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Genomic diversity and evolution of the head crest in the rock pigeon

21 June 2018

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

21 June 2018

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Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

21 June 2018

1 reference

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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

21 June 2018

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A permutation procedure to correct for confounders in case-control studies, including tests of rare variation

21 June 2018

1 reference

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Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

21 June 2018

1 reference

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Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

21 June 2018

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The UCSC Genome Browser database: extensions and updates 2011.

21 June 2018

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Genome-wide association mapping reveals a rich genetic architecture of complex traits in Oryza sativa

21 June 2018

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Design considerations for massively parallel sequencing studies of complex human disease

21 June 2018

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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

21 June 2018

1 reference

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STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

21 June 2018

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A probabilistic disease-gene finder for personal genomes.

21 June 2018

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Population structure and genetic diversity of New World maize races assessed by DNA microsatellites

21 June 2018

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Testing for an unusual distribution of rare variants

21 June 2018

1 reference

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A map of human genome variation from population-scale sequencing

21 June 2018

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A standard variation file format for human genome sequences

21 June 2018

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

21 June 2018

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

21 June 2018

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A method and server for predicting damaging missense mutations

21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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

21 June 2018

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Strong association of de novo copy number mutations with autism

21 June 2018

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Gene-dropping vs. empirical variance estimation for allele-sharing linkage statistics

21 June 2018

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21 June 2018

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21 June 2018

Our load of mutations

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GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

21 June 2018

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 June 2018

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A General Model for the Genetic Analysis of Pedigree Data

21 June 2018

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Adjusted sequence kernel association test for rare variants controlling for cryptic and family relatedness.

21 June 2018

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21 January 2018

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Exact genetic linkage computations for general pedigrees

21 January 2018

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Equation of State Calculations by Fast Computing Machines

21 January 2018

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

21 January 2018

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Autosomal-Dominant Chronic Mucocutaneous Candidiasis with STAT1-Mutation can be Complicated with Chronic Active Hepatitis and Hypothyroidism

21 January 2018

1 reference

Linkage and association: basic concepts

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24837662

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NBT.2895

1 reference

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18 March 2020

1 reference

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18 March 2020

PubMed publication ID

24837662

1 reference

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