(Q33824777)

29 July 2017

Performance comparison of whole-genome sequencing platforms (English)

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Erratum: Corrigendum: Performance comparison of whole-genome sequencing platforms

29 July 2017

whole genome sequencing

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based on heuristic

inferred from title

corrigendum / erratum

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Maeve O'Huallachain

6

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Atul Butte

11

object named as

Atul J Butte

1 reference

29 July 2017

10

Mark B Gerstein

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29 July 2017

13

Michael Snyder

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29 July 2017

8

Lukas Habegger

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29 July 2017

5

Georges Natsoulis

1 reference

29 July 2017

Hugo Y K Lam

1

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29 July 2017

Michael J Clark

2

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29 July 2017

Rui Chen

3

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29 July 2017

Rong Chen

4

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29 July 2017

Frederick E Dewey

7

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29 July 2017

Euan A Ashley

9

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29 July 2017

Hanlee P Ji

12

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29 July 2017

18 December 2011

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29 July 2017

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30

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1

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29 July 2017

78-82

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https://scigraph.springernature.com/pub.10.1038/nbt.2065

29 July 2017

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cites work

Performance comparison of exome DNA sequencing technologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Accurate and comprehensive sequencing of personal genomes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

The variant call format and VCFtools

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

A map of human genome variation from population-scale sequencing

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Dindel: accurate indel calls from short-read data

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

The mutation spectrum revealed by paired genome sequences from a lung cancer patient

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Clinical assessment incorporating a personal genome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Personal genome sequencing: current approaches and challenges

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Single-molecule sequencing of an individual human genome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Fast and accurate short read alignment with Burrows-Wheeler transform

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

The complete genome of an individual by massively parallel DNA sequencing

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Paired-end mapping reveals extensive structural variation in the human genome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Initial sequencing and analysis of the human genome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

dbSNP: the NCBI database of genetic variation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076012

Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients

4 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNBT.2065

21 January 2018

Identifiers

DOI

10.1038/NBT.2065

1 reference

29 July 2017

1 reference

29 July 2017

1 reference