Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. (Q38037294)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

0 references

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Iris Schrijver

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Nazneen Aziz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Daniel H Farkas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Andrea Ferreira Gonzalez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Timothy C Greiner

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Wayne W Grody

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Tina Hambuch

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Lisa Kalman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Jeffrey A Kant

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Roger D Klein

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Debra G B Leonard

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Ira M Lubin

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Rong Mao

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Narasimhan Nagan

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Victoria M Pratt

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Mark E Sobel

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Karl V Voelkerding

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Jane S Gibson

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

publication date

20 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Molecular Diagnostics

11 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

page(s)

525-540

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

11 February 2020

cites work

1 reference

12 December 2020

A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020

Gene expression profiling predicts clinical outcome of breast cancer

1 reference

12 December 2020

Candidate-gene approaches for studying complex genetic traits: practical considerations

1 reference

12 December 2020

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

1 reference

12 December 2020

Medicare, Medicaid, and CLIA programs; laboratory requirements relating to quality systems and certain personnel qualifications. Final rule

1 reference

12 December 2020

Ethical issues raised by genetic testing with oligonucleotide microarrays

1 reference

12 December 2020

Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid

1 reference

12 December 2020

DNA sequencing using capillary array electrophoresis

1 reference

12 December 2020

Finishing the euchromatic sequence of the human genome

1 reference

12 December 2020

Genome-wide association studies for common diseases and complex traits

1 reference

12 December 2020

Sensitive sequencing method for KRAS mutation detection by Pyrosequencing

1 reference

12 December 2020

Genome sequencing in microfabricated high-density picolitre reactors

1 reference

12 December 2020

Intellectual property. Enhanced: intellectual property landscape of the human genome.

1 reference

12 December 2020

Benchmark for evaluating the quality of DNA sequencing: proposal from an international external quality assessment scheme.

1 reference

12 December 2020

Multicenter validation of a gene expression-based prognostic signature in lymph node-negative primary breast cancer.

1 reference

12 December 2020

EQUAL-quant: an international external quality assessment scheme for real-time PCR.

1 reference

12 December 2020

Mapping the cancer genome. Pinpointing the genes involved in cancer will help chart a new course across the complex landscape of human malignancies.

1 reference

12 December 2020

Enhanced detection of TP53 mutations using a GC-clamp in denaturing high performance liquid chromatography

1 reference

12 December 2020

Gene patents and genetic testing in the United States

1 reference

12 December 2020

Genome-wide in situ exon capture for selective resequencing

1 reference

12 December 2020

Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing

1 reference

12 December 2020

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

1 reference

12 December 2020

Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

1 reference

12 December 2020

Next-generation DNA sequencing

1 reference

12 December 2020

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

1 reference

12 December 2020

Genotype score in addition to common risk factors for prediction of type 2 diabetes

1 reference

12 December 2020

Diagnosis of genetic disease using recombinant DNA. Third edition

1 reference

12 December 2020

Next-generation sequencing: from basic research to diagnostics

1 reference

12 December 2020

Genomewide association studies and human disease

1 reference

12 December 2020

Whole genome scanning: resolving clinical diagnosis and management amidst complex data

1 reference

12 December 2020

Direct-to-consumer genetic testing: failure is not an option

1 reference

12 December 2020

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop

1 reference

12 December 2020

Massively parallel sequencing: the next big thing in genetic medicine

1 reference

12 December 2020

Sense from sequence reads: methods for alignment and assembly

1 reference

12 December 2020

Sequencing technologies - the next generation

1 reference

12 December 2020

A comprehensive catalogue of somatic mutations from a human cancer genome

1 reference

12 December 2020

NCCN clinical practice guidelines in oncology. Colorectal cancer screening

1 reference

12 December 2020

Association between the 21-gene recurrence score assay and risk of locoregional recurrence in node-negative, estrogen receptor-positive breast cancer: results from NSABP B-14 and NSABP B-20

1 reference

12 December 2020

Association between a literature-based genetic risk score and cardiovascular events in women

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical assessment incorporating a personal genome

1 reference

12 December 2020

Missing heritability and strategies for finding the underlying causes of complex disease

1 reference

12 December 2020

Genetic/familial high-risk assessment: breast and ovarian

1 reference

12 December 2020

Genomewide association studies and assessment of the risk of disease

1 reference

12 December 2020

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

12 December 2020

Population genetics of venous thromboembolism. A narrative review.

1 reference

12 December 2020

Clinical cancer genomics: how soon is now?

1 reference

12 December 2020

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

1 reference

12 December 2020

Genomics and the continuum of cancer care

1 reference

12 December 2020

Charting a course for genomic medicine from base pairs to bedside

1 reference

12 December 2020

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

1 reference

12 December 2020

Downsizing genomic medicine: approaching the ethical complexity of whole-genome sequencing by starting small

1 reference

12 December 2020

The advent of personal genome sequencing

1 reference

12 December 2020

Next-generation sequencing and its applications in molecular diagnostics

1 reference

12 December 2020

An integrated semiconductor device enabling non-optical genome sequencing

1 reference

12 December 2020

Whole cancer genome sequencing by next-generation methods

1 reference

12 December 2020

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

1 reference

12 December 2020

Cancer drugs find a companion with new diagnostic tests

1 reference

12 December 2020

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study

1 reference

12 December 2020

Repetitive DNA and next-generation sequencing: computational challenges and solutions

1 reference

12 December 2020

Performance comparison of whole-genome sequencing platforms

1 reference

12 December 2020

Technical desiderata for the integration of genomic data into Electronic Health Records

1 reference

12 December 2020

Next generation DNA sequencing and the future of genomic medicine

1 reference

12 December 2020

Diagnosis of genetic disease using recombinant DNA. Second edition

1 reference

12 December 2020

A new method for sequencing DNA

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

Diagnosis of genetic disease using recombinant DNA.

1 reference

12 December 2020

Fluorescence detection in automated DNA sequence analysis.

1 reference

12 December 2020

Diagnosis of human genetic disease using recombinant DNA. Fourth edition

1 reference

12 December 2020

A denaturing gradient gel electrophoresis assay for sensitive detection of p53 mutations

1 reference

12 December 2020

New dye-labeled terminators for improved DNA sequencing patterns

1 reference

12 December 2020

10.1016/J.JMOLDX.2012.04.006

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22918138%20AND%20SRC:MED&resulttype=core&format=json