(Q30872524)

13 October 2017

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data (English)

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13 October 2017

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Dalia H Ghoneim

1

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13 October 2017

Jason R Myers

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2

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13 October 2017

Emily Tuttle

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3

1 reference

13 October 2017

Alex R Paciorkowski

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4

1 reference

13 October 2017

1 December 2014

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13 October 2017

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13 October 2017

7

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13 October 2017

864

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https://scigraph.springernature.com/pub.10.1186/1756-0500-7-864

13 October 2017

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cites work

Reducing INDEL calling errors in whole genome and exome sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Identification and validation of loss of function variants in clinical contexts

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

SOAPindel: efficient identification of indels from short paired reads

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Analysis of insertion-deletion from deep-sequencing data: software evaluation for optimal detection

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

ClipCrop: a tool for detecting structural variations with single-base resolution using soft-clipping information

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Detection of structural variants and indels within exome data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Natural genetic variation caused by small insertions and deletions in the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Dindel: accurate indel calls from short-read data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Small insertions and deletions (INDELs) in human genomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Microindel detection in short-read sequence data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

The diploid genome sequence of an Asian individual

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

Accurate whole human genome sequencing using reversible terminator chemistry

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265454

A LRPAP1 intronic insertion/deletion polymorphism and phenotypic variability in Alzheimer disease.

14 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1756-0500-7-864

21 January 2018

Identifiers

DOI

10.1186/1756-0500-7-864

1 reference

Dimensions Publication ID

13 October 2017

0 references

1 reference

13 October 2017

1 reference