(Q36451454)

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Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

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scholarly article

1 reference

Europe PubMed Central

14 August 2017

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing (English)

1 reference

Europe PubMed Central

14 August 2017

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David N. Cooper

10

1 reference

Europe PubMed Central

14 August 2017

Chris Tyler-Smith

11

object named as

Chris Tyler-Smith

1 reference

Europe PubMed Central

14 August 2017

object named as

Qasim Ayub

3

0 references

1000 Genomes Project

12

object named as

1000 Genomes Project Consortium

1 reference

Europe PubMed Central

14 August 2017

6

object named as

Matthew Mort

1 reference

Europe PubMed Central

14 August 2017

author name string

Yali Xue

1

1 reference

Europe PubMed Central

14 August 2017

Yuan Chen

2

1 reference

Europe PubMed Central

14 August 2017

Ni Huang

4

1 reference

Europe PubMed Central

14 August 2017

Edward V Ball

5

1 reference

Europe PubMed Central

14 August 2017

Andrew D Phillips

7

1 reference

Europe PubMed Central

14 August 2017

Katy Shaw

8

1 reference

Europe PubMed Central

14 August 2017

Peter D Stenson

9

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Europe PubMed Central

14 August 2017

language of work or name

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publication date

1 December 2012

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Europe PubMed Central

14 August 2017

American Journal of Human Genetics

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Europe PubMed Central

14 August 2017

91

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Europe PubMed Central

14 August 2017

1022-1032

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Europe PubMed Central

14 August 2017

6

1 reference

Europe PubMed Central

14 August 2017

A population-based study of autosomal-recessive disease-causing mutations in a founder population

1 reference

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1 reference

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A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

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1 reference

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Comprehensive comparison of three commercial human whole-exome capture platforms

1 reference

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What fraction of the human genome is functional?

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Carrier testing for severe childhood recessive diseases by next-generation sequencing

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1 reference

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1 reference

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Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

1 reference

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Clinical assessment incorporating a personal genome

1 reference

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A method and server for predicting damaging missense mutations

1 reference

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Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

1 reference

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Genetic mechanisms and modifying factors in hereditary hemochromatosis.

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Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

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30 September 2017

Origins and functional impact of copy number variation in the human genome

1 reference

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The promise and reality of personal genomics

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1 reference

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30 September 2017

Structural and functional analyses of the DMC1-M200V polymorphism found in the human population

1 reference

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Assessing the evolutionary impact of amino acid mutations in the human genome

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Proportionally more deleterious genetic variation in European than in African populations.

1 reference

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

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Global variation in copy number in the human genome

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Our load of mutations

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1 reference

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21 September 2018

Identifiers

10.1016/J.AJHG.2012.10.015

1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

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