(Q35884217)

10 August 2017

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples (English)

1 reference

10 August 2017

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Shannon K McDonnell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

2

Noralane M Lindor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Kiley J Johnson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Eric D Wieben

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Gianrico Farrugia

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

James R Cerhan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Stephen N Thibodeau

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Janet E Olson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

1 reference

24 July 2015

1 reference

10 August 2017

Frontiers in Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

244

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

Guidelines for investigating causality of sequence variants in human disease

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

Clinical interpretation and implications of whole-genome sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

An evaluation of copy number variation detection tools from whole-exome sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

The Mayo Clinic Biobank: a building block for individualized medicine

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

TGF-β-Smad3 signaling in emphysema and pulmonary fibrosis: an epigenetic aberration of normal development?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

A framework for variation discovery and genotyping using next-generation DNA sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

A map of human genome variation from population-scale sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

A method and server for predicting damaging missense mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

BEDTools: a flexible suite of utilities for comparing genomic features

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

Targeted capture and massively parallel sequencing of 12 human exomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

Smad3 signaling involved in pulmonary fibrosis and emphysema

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

The personal genome project

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

SIFT: Predicting amino acid changes that affect protein function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

Human Gene Mutation Database (HGMD): 2003 update.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513238

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.3389%2FFGENE.2015.00244

Novel TRAF1-ALK fusion identified by deep RNA sequencing of anaplastic large cell lymphoma

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26257771

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FGENE.2015.00244

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26257771%20AND%20SRC:MED&resulttype=core&format=json