Finding disease variants in Mendelian disorders by using sequence data: methods and applications (Q34089812)

30 July 2017

Finding disease variants in Mendelian disorders by using sequence data: methods and applications (English)

1 reference

30 July 2017

5

1 reference

30 July 2017

Dan L Nicolae

6

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Iuliana Ionita-Laza

1

object named as

Iuliana Ionita-Laza

1 reference

30 July 2017

Vlad Makarov

2

1 reference

30 July 2017

Seungtai Yoon

3

1 reference

30 July 2017

Benjamin Raby

4

1 reference

30 July 2017

Xihong Lin

7

1 reference

30 July 2017

language of work or name

English

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publication date

1 December 2011

1 reference

American Journal of Human Genetics

30 July 2017

1 reference

30 July 2017

89

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30 July 2017

701-712

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30 July 2017

6

1 reference

Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Rare-variant association testing for sequencing data with the sequence kernel association test

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Genomic contributions to Mendelian disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Testing for an unusual distribution of rare variants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

An evolutionary framework for association testing in resequencing studies.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Pooled association tests for rare variants in exon-resequencing studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

A data-adaptive sum test for disease association with multiple common or rare variants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

A method and server for predicting damaging missense mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Exome sequencing identifies the cause of a mendelian disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Targeted capture and massively parallel sequencing of 12 human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Genomewide weighted hypothesis testing in family-based association studies, with an application to a 100K scan

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Calibrating a coalescent simulation of human genome sequence variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

The allelic architecture of human disease genes: common disease-common variant... or not?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Relative-to-relative transition probabilities for two linked genes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

A new testing strategy to identify rare variants with either risk or protective effect on disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

A covering method for detecting genetic associations between rare variants and common phenotypes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Estimating the number of unseen variants in the human genome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

A new multimarker test for family-based association studies.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Using linkage genome scans to improve power of association in genome scans

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234377

Confidence intervals for directly standardized rates: a method based on the gamma distribution

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22137099

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.11.003

1 reference

30 July 2017

1 reference

30 July 2017

1 reference