Clinical interpretation and implications of whole-genome sequencing (Q33989890)

30 July 2017

Clinical interpretation and implications of whole-genome sequencing (English)

1 reference

30 July 2017

whole genome sequencing

1 reference

22

John P A Ioannidis

0 references

Michelle Whirl-Carrillo

16

Michelle Whirl-Carrillo

1 reference

30 July 2017

28

Thomas Quertermous

1 reference

30 July 2017

Themistocles L Assimes

Themistocles L Assimes

25

0 references

Sean P. David

Sean P David

10

0 references

Atul Butte

19

Atul J Butte

1 reference

30 July 2017

Megan E Grove

2

0 references

Russ Altman

24

Russ B Altman

1 reference

30 July 2017

20

James M Ford

1 reference

30 July 2017

26

Michael Snyder

1 reference

30 July 2017

18

Matthew T Wheeler

1 reference

30 July 2017

13

Colleen Caleshu

1 reference

30 July 2017

15

Teri E Klein

1 reference

30 July 2017

3

Cuiping Pan

1 reference

30 July 2017

8

Rachel L Goldfeder

1 reference

30 July 2017

9

Gregory M Enns

1 reference

30 July 2017

Frederick E Dewey

1

1 reference

30 July 2017

Benjamin A Goldstein

4

1 reference

30 July 2017

Jonathan A Bernstein

5

1 reference

30 July 2017

Hassan Chaib

6

1 reference

30 July 2017

Jason D Merker

7

1 reference

30 July 2017

Neda Pakdaman

11

1 reference

30 July 2017

Kelly E Ormond

12

1 reference

30 July 2017

Kerry Kingham

14

1 reference

30 July 2017

Kenneth Sakamoto

17

1 reference

30 July 2017

Linda Boxer

21

1 reference

30 July 2017

Alan C Yeung

23

1 reference

30 July 2017

Euan A Ashley

27

1 reference

30 July 2017

language of work or name

English

0 references

publication date

1 March 2014

1 reference

The Journal of the American Medical Association

30 July 2017

1 reference

30 July 2017

311

1 reference

30 July 2017

10

1 reference

30 July 2017

1035-1045

1 reference

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

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Large-scale association analysis identifies new risk loci for coronary artery disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

An informatics approach to analyzing the incidentalome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Pharmacogenomics knowledge for personalized medicine

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

A public resource facilitating clinical use of genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Randomized trial of personal genomics for preventive cardiology: design and challenges

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for codeine therapy in the context of cytochrome P450 2D6 (CYP2D6) genotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Performance comparison of whole-genome sequencing platforms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Exome sequencing as a tool for Mendelian disease gene discovery

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Exome sequencing reveals VCP mutations as a cause of familial ALS

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Loss-of-function variants in the genomes of healthy humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Clinical assessment incorporating a personal genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Accurate whole human genome sequencing using reversible terminator chemistry

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

BRCA1 5083del19 mutant allele selectively up-regulates periostin expression in vitro and in vivo.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Mitochondrial DNA polymerase-gamma and human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

The kappa coefficient of agreement for multiple observers when the number of subjects is small

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

The Human Gene Mutation Database: 2008 update

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4119063

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24618965

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24618965

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic/familial high-risk assessment: breast and ovarian

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24618965

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMA.2014.1717

1 reference

30 July 2017

1 reference

30 July 2017

1 reference