(Q36451454)

English

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

scientific article

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

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

PMC publication ID

14 August 2017

0 references

David N. Cooper

10

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Chris Tyler-Smith

11

object named as

Chris Tyler-Smith

1 reference

Europe PubMed Central

PMC publication ID

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

PMC publication ID

14 August 2017

6

object named as

Matthew Mort

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

author name string

Yali Xue

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Yuan Chen

2

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Ni Huang

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Edward V Ball

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Andrew D Phillips

7

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Katy Shaw

8

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Peter D Stenson

9

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

language of work or name

0 references

publication date

1 December 2012

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

91

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1022-1032

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Taxonomizing, sizing, and overcoming the incidentalome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Comprehensive comparison of three commercial human whole-exome capture platforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Defining the phenotypes of sickle cell disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

The functional spectrum of low-frequency coding variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

What fraction of the human genome is functional?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Technology-specific error signatures in the 1000 Genomes Project data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Clinical penetrance of C282Y homozygous HFE hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Clinical assessment incorporating a personal genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Genetic mechanisms and modifying factors in hereditary hemochromatosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

The promise and reality of personal genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Genetic investigation of four meiotic genes in women with premature ovarian failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Raising the estimate of functional human sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

AN ESTIMATE OF THE MUTATIONAL DAMAGE IN MAN FROM DATA ON CONSANGUINEOUS MARRIAGES

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Our load of mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Identification of novel USH2A mutations: implications for the structure of USH2A protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

Contamination of the genome by very slightly deleterious mutations: why have we not died 100 times over?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

30 September 2017

The prevalence of Usher syndrome and other retinal dystrophy‐hearing impairment associations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

28 June 2018

The STOX1 genotype associated with pre-eclampsia leads to a reduction of trophoblast invasion by alpha-T-catenin upregulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

21 September 2018

The Human Gene Mutation Database: 2008 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

21 September 2018

Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516590

21 September 2018

Identifiers

10.1016/J.AJHG.2012.10.015

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q36451454&oldid=1631717240"