Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing (Q34389977)

1 August 2017

title

Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing (English)

1 reference

1 August 2017

author

Britt-Sabina Petersen

6

object named as

Britt-Sabina Petersen

0 references

Stefan Schreiber

9

object named as

Stefan Schreiber

1 reference

1 August 2017

11

Andre Franke

1 reference

1 August 2017

Abdou Elsharawy

1

1 reference

1 August 2017

Michael Forster

2

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1 August 2017

Nadine Schracke

3

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1 August 2017

Andreas Keller

4

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1 August 2017

Ingo Thomsen

5

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1 August 2017

Björn Stade

7

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1 August 2017

Peer Stähler

8

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1 August 2017

Philip Rosenstiel

10

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1 August 2017

language of work or name

English

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publication date

22 August 2012

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1 August 2017

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1 August 2017

volume

13

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1 August 2017

page(s)

417

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From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Targeted enrichment of genomic DNA regions for next-generation sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

The variant call format and VCFtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Integrative genomics viewer

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

A map of human genome variation from population-scale sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Target-enrichment strategies for next-generation sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

BEDTools: a flexible suite of utilities for comparing genomic features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Finding the missing heritability of complex diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Sequencing genomes: from individuals to populations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Microarray-based multicycle-enrichment of genomic subsets for targeted next-generation sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

DNA Sudoku--harnessing high-throughput sequencing for multiplexed specimen analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Next-generation sequencing: from basic research to diagnostics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Accurate whole human genome sequencing using reversible terminator chemistry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Identification of genetic variants using bar-coded multiplexed sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Optimal pooling for genome re-sequencing with ultra-high-throughput short-read technologies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

The complete genome of an individual by massively parallel DNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Quality scores and SNP detection in sequencing-by-synthesis systems

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563481

Overlapping pools for high-throughput targeted resequencing

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-13-417

Rapid whole-genome mutational profiling using next-generation sequencing technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-13-417

DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-13-417

Specific sequence selection and next generation resequencing of 68 E. coli genes using HybSelect

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-13-417

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22913592

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Targeted next-generation sequencing by specific capture of multiple genomic loci using low-volume microfluidic DNA arrays

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22913592

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2164-13-417

1 reference

1 August 2017

1 reference

1 August 2017

1 reference