(Q30622162)

12 October 2017

A systematic approach to the reporting of medically relevant findings from whole genome sequencing (English)

1 reference

12 October 2017

whole genome sequencing

1 reference

Matthew S Lebo

8

0 references

Kurt D Christensen

object named as

Kurt D Christensen

3

0 references

Heidi L. Rehm

object named as

Heidi L Rehm

16

0 references

Robert C. Green

15

object named as

Robert C Green

1 reference

12 October 2017

4

Isaac S Kohane

1 reference

12 October 2017

13

Christine E Seidman

1 reference

12 October 2017

5

Joel Krier

1 reference

12 October 2017

Heather M McLaughlin

1

1 reference

12 October 2017

Ozge Ceyhan-Birsoy

2

1 reference

12 October 2017

William J Lane

6

1 reference

12 October 2017

Denise Lautenbach

7

1 reference

12 October 2017

Kalotina Machini

9

1 reference

12 October 2017

Calum A MacRae

10

1 reference

12 October 2017

Danielle R Azzariti

11

1 reference

12 October 2017

Michael F Murray

12

1 reference

12 October 2017

Jason L Vassy

14

1 reference

12 October 2017

MedSeq Project

17

1 reference

12 October 2017

14 December 2014

1 reference

12 October 2017

1 reference

12 October 2017

15

1 reference

12 October 2017

134

1 reference

Creative Commons Attribution 4.0 International

12 October 2017

start time

1 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s12881-014-0134-1

0 references

cites work

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Molecular findings among patients referred for clinical whole-exome sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Medical genetic counseling for breast cancer in primary care: a synthesis of major determinants of physicians' practices in primary care settings

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Diagnostic clinical genome and exome sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Clinical interpretation and implications of whole-genome sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

ClinVar: public archive of relationships among sequence variation and human phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Genetic and genomic testing in clinical practice: what you need to know

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

A systematic approach to assessing the clinical significance of genetic variants.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Pharmacogenomics knowledge for personalized medicine

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Exome sequencing can improve diagnosis and alter patient management

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Clinical application of exome sequencing in undiagnosed genetic conditions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Communicating new knowledge on previously reported genetic variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Fast and accurate long-read alignment with Burrows-Wheeler transform

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Accurate whole human genome sequencing using reversible terminator chemistry

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Cataloging coding sequence variations in human genome databases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Common variants in WFS1 confer risk of type 2 diabetes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4342199

Genetic services and attitudes in primary care pediatrics.

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0134-1

Human Gene Mutation Database (HGMD): 2003 update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0134-1

Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0134-1

Practices and policies of clinical exome sequencing providers: analysis and implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0134-1

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25714468

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-014-0134-1

1 reference

Dimensions Publication ID

12 October 2017

0 references

1 reference

12 October 2017

1 reference