Performance comparison of exome DNA sequencing technologies (Q34023426)

30 July 2017

title

Performance comparison of exome DNA sequencing technologies (English)

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30 July 2017

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Konrad J Karczewski

4

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Atul Butte

7

object named as

Atul J Butte

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30 July 2017

8

Michael Snyder

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30 July 2017

6

Ghia Euskirchen

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30 July 2017

Michael J Clark

1

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30 July 2017

Rui Chen

2

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30 July 2017

Hugo Y K Lam

3

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30 July 2017

Rong Chen

5

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30 July 2017

publication date

25 September 2011

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30 July 2017

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30 July 2017

volume

29

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30 July 2017

issue

10

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30 July 2017

page(s)

908-914

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Exome sequencing identifies ZNF644 mutations in high myopia

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Dindel: accurate indel calls from short-read data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Whole exome capture in solution with 3 Gbp of data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Clinical assessment incorporating a personal genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Exome sequencing of a multigenerational human pedigree

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Exome sequencing identifies the cause of a mendelian disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Targeted capture and massively parallel sequencing of 12 human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

The Sequence Alignment/Map format and SAMtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

The complete genome of an individual by massively parallel DNA sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

miRBase: tools for microRNA genomics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

An initial map of insertion and deletion (INDEL) variation in the human genome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

Assessment of the sensitivity and specificity of oligonucleotide (50mer) microarrays

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127531

NCBI Reference Sequences: current status, policy and new initiatives

28 July 2018

1 reference

21 January 2018

1 reference

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

21 January 2018

1 reference

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

21 January 2018

1 reference

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

21 January 2018

1 reference

Determinants of sensitivity and specificity in spotted DNA microarrays with unmodified oligonucleotides

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21947028

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NBT.1975

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30 July 2017

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30 July 2017

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