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DNA sequencing: clinical applications of new DNA sequencing technologies.
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scholarly article
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Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
title
DNA sequencing: clinical applications of new DNA sequencing technologies
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
main subject
DNA sequencing
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based on heuristic
inferred from title
author
Stephen Pan
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
Stephen Quake
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4
object named as
Stephen R Quake
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
Matthew T Wheeler
object named as
Matthew T Wheeler
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3
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ORCID Public Data File 2021
author name string
Frederick E Dewey
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
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23 January 2020
Euan A Ashley
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
language of work or name
English
0 references
publication date
1 February 2012
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
published in
Circulation
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stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
volume
125
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stated in
Europe PubMed Central
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3364518
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
issue
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
page(s)
931-944
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stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
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2 October 2017
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Analysis of genetic inheritance in a family quartet by whole-genome sequencing
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2 October 2017
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
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Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy
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2 October 2017
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
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2 October 2017
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
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2 October 2017
Human DNA methylomes at base resolution show widespread epigenomic differences
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Direct RNA sequencing
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2 October 2017
Single-molecule sequencing of an individual human genome
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2 October 2017
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
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2 October 2017
Identification of deleterious mutations within three human genomes
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2 October 2017
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
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2 October 2017
The Sequence Alignment/Map format and SAMtools
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Duplication hotspots, rare genomic disorders, and common disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
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2 October 2017
Continuous base identification for single-molecule nanopore DNA sequencing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
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2 October 2017
Ensembl 2009
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
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2 October 2017
Real-time DNA sequencing from single polymerase molecules
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
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2 October 2017
Accurate whole human genome sequencing using reversible terminator chemistry
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Mapping short DNA sequencing reads and calling variants using mapping quality scores
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Large recurrent microdeletions associated with schizophrenia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
The complete genome of an individual by massively parallel DNA sequencing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Association between microdeletion and microduplication at 16p11.2 and autism
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Paired-end mapping reveals extensive structural variation in the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
GENCODE: producing a reference annotation for ENCODE
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
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2 October 2017
PharmGKB: the pharmacogenetics and pharmacogenomics knowledge base
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
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2 October 2017
Distribution and intensity of constraint in mammalian genomic sequence
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Finishing the euchromatic sequence of the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
SIFT: Predicting amino acid changes that affect protein function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Initial sequencing and analysis of the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
The Sequence of the Human Genome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
The human gene mutation database
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
DNA sequencing with chain-terminating inhibitors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
A new method for sequencing DNA
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
2 October 2017
Translocation of double-stranded DNA through membrane-adapted phi29 motor protein nanopores
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
11 July 2018
Sensitive and accurate detection of copy number variants using read depth of coverage
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
11 July 2018
A de novo paradigm for mental retardation.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
23 September 2018
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
23 September 2018
The Human Gene Mutation Database: 2008 update
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
23 September 2018
MSB: a mean-shift-based approach for the analysis of structural variation in the genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
23 September 2018
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3364518
retrieved
5 December 2018
Identifiers
DOI
10.1161/CIRCULATIONAHA.110.972828
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
PMC publication ID
3364518
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
PubMed publication ID
22354974
1 reference
stated in
Europe PubMed Central
PMC publication ID
3364518
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354974%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 January 2020
ResearchGate publication ID
221851786
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