Medical implications of technical accuracy in genome sequencing (Q23005220)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

4

Megan E Grove

Megan E

Grove

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

6

Matthew T Wheeler

Matthew T

Wheeler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Daryl Waggott

5

Daryl

Waggott

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Marc Salit

7

Marc

Salit

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Rachel L Goldfeder

1

Rachel L

Goldfeder

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

James R Priest

2

James R

Priest

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Euan A Ashley

8

Euan A

Ashley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

2 March 2016

0 references

published in

Genome Medicine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

Achieving high-sensitivity for clinical applications using augmented exome sequencing

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=4774017

Resolving the complexity of the human genome using single-molecule sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Human genome sequencing in health and disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

A comparative analysis of exome capture

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Clinical assessment incorporating a personal genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Distinguishing protein-coding and noncoding genes in the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Repetitive elements may comprise over two-thirds of the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

BEDTools: a flexible suite of utilities for comparing genomic features

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Emergency medical genomes: a breakthrough application of precision medicine

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

New insights into the performance of human whole-exome capture platforms.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

An analytical framework for optimizing variant discovery from personal genomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

The UCSC Genome Browser database: 2015 update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Reducing INDEL calling errors in whole genome and exome sequencing data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Estimating genotype error rates from high-coverage next-generation sequence data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Variant detection sensitivity and biases in whole genome and exome sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Choice of transcripts and software has a large effect on variant annotation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Biophysics, pathophysiology, and pharmacology of ion channel gating pores

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Analytical validation of whole exome and whole genome sequencing for clinical applications

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Comparison of somatic mutation calling methods in amplicon and whole exome sequence data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Clinical interpretation and implications of whole-genome sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Performance comparison of exome DNA sequencing technologies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Limitations of next-generation genome sequence assembly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Alternative promoter usage and splicing of the human SCN5A gene contribute to transcript heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774017

Integrated genomic and prospective clinical studies show the importance of modular pleiotropy for disease susceptibility, diagnosis and treatment

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-016-0269-0

Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-016-0269-0

Good laboratory practice for clinical next-generation sequencing informatics pipelines.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-016-0269-0

Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-016-0269-0

Shotgun sequence assembly and recent segmental duplications within the human genome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26932475

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26932475

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13073-016-0269-0

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 May 2020

1015198906

0 references

Fatcat ID

release_adn6nzg55jgltd2sru7jyx5inu

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

PubMed publication ID

26932475

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26932475%20AND%20SRC:MED&resulttype=core&format=json