(Q30408185)

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Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results (English)

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

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Jessica X. Chong

4

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Timothy A. Graubert

object named as

Timothy A Graubert

7

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Deborah A Nickerson

10

object named as

Deborah A Nickerson

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Christopher J O'Donnell

8

object named as

Christopher J O'Donnell

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

author name string

Holly K Tabor

1

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Paul L Auer

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Seema M Jamal

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Joon-Ho Yu

5

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Adam S Gordon

6

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Stephen S Rich

9

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

NHLBI Exome Sequencing Project

11

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Michael J Bamshad

12

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Europe PubMed Central

PMC publication ID

15 October 2017

language of work or name

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publication date

31 July 2014

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Europe PubMed Central

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15 October 2017

American Journal of Human Genetics

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Europe PubMed Central

PMC publication ID

15 October 2017

95

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Europe PubMed Central

PMC publication ID

15 October 2017

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

183-193

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing

1 reference

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Clinical interpretation and implications of whole-genome sequencing

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A general framework for estimating the relative pathogenicity of human genetic variants

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Improving the value of costly genetic reference laboratory testing with active utilization management

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

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Personalized genomic disease risk of volunteers

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Actionable, pathogenic incidental findings in 1,000 participants' exomes

1 reference

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20 June 2018

Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children

1 reference

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Mandatory extended searches in all genome sequencing: "incidental findings," patient autonomy, and shared decision making

1 reference

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Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional

1 reference

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20 June 2018

Recommendations for returning genomic incidental findings? We need to talk!

1 reference

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20 June 2018

Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent

1 reference

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20 June 2018

Incidental findings in the era of whole genome sequencing?

1 reference

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20 June 2018

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

1 reference

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20 June 2018

Point-counterpoint. Ethics and genomic incidental findings

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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

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Self-guided management of exome and whole-genome sequencing results: changing the results return model

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Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

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

1 reference

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

1 reference

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Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

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12 December 2020

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10.1016/J.AJHG.2014.07.006

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

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