(Q41822367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

main subject

whole genome sequencing

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

9

Hakon Hakonarson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

12

Kai Wang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

13

Gholson J Lyon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

Tao Jiang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Guangqing Sun

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Yiyang Wu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Wei Wang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Jingchu Hu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Paul Bodily

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Lifeng Tian

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

W Evan Johnson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Zhi Wei

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

publication date

27 March 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

page(s)

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/gm432

27 February 2020

exact match

0 references

cites work

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6 June 2018

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6 June 2018

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6 June 2018

1 reference

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6 June 2018

1 reference

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6 June 2018

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6 June 2018

1 reference

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

6 June 2018

1 reference

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Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score

6 June 2018

1 reference

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Human genetic individuality

6 June 2018

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

6 June 2018

1 reference

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De Novo Gene Disruptions in Children on the Autistic Spectrum

6 June 2018

1 reference

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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

6 June 2018

1 reference

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

6 June 2018

1 reference

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 June 2018

1 reference

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Detecting and annotating genetic variations using the HugeSeq pipeline

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Genotype imputation with thousands of genomes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Performance comparison of whole-genome sequencing platforms

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

6 June 2018

1 reference

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

6 June 2018

1 reference

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SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data

6 June 2018

1 reference

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Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

6 June 2018

1 reference

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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

6 June 2018

1 reference

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Variation in genome-wide mutation rates within and between human families

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Genotype and SNP calling from next-generation sequencing data

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 June 2018

1 reference

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Low-coverage sequencing: implications for design of complex trait association studies

6 June 2018

1 reference

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

6 June 2018

1 reference

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A fast, powerful method for detecting identity by descent

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Mapping copy number variation by population-scale genome sequencing

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Small insertions and deletions (INDELs) in human genomes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

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

6 June 2018

1 reference

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

State of the art de novo assembly of human genomes from massively parallel sequencing data

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Microindel detection in short-read sequence data

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

De novo assembly of human genomes with massively parallel short read sequencing

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Exome sequencing identifies the cause of a mendelian disorder

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

The GNUMAP algorithm: unbiased probabilistic mapping of oligonucleotides from next-generation sequencing

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Targeted capture and massively parallel sequencing of 12 human exomes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

The Sequence Alignment/Map format and SAMtools

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

SOAP2: an improved ultrafast tool for short read alignment

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Fast and accurate short read alignment with Burrows-Wheeler transform

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

SNP detection for massively parallel whole-genome resequencing

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

SOAP: short oligonucleotide alignment program

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Pairwise end sequencing: a unified approach to genomic mapping and sequencing

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Computational techniques for human genome resequencing using mated gapped reads

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

The advent of personal genome sequencing

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706896

Performance comparison of exome DNA sequencing technologies

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FGM432

21 January 2018

Identifiers

DOI

10.1186/GM432

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

27 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

PubMed publication ID

23537139

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23537139%20AND%20SRC:MED&resulttype=core&format=json