Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing (Q34117645)

31 July 2017

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing (English)

1 reference

31 July 2017

Xiaoming Wei

1

1 reference

31 July 2017

Xiangchun Ju

2

1 reference

31 July 2017

Xin Yi

3

1 reference

31 July 2017

Qian Zhu

4

1 reference

31 July 2017

Ning Qu

5

1 reference

31 July 2017

Tengfei Liu

6

1 reference

31 July 2017

Yang Chen

7

1 reference

31 July 2017

Hui Jiang

8

1 reference

31 July 2017

Guanghui Yang

9

1 reference

31 July 2017

Ruan Zhen

10

1 reference

31 July 2017

Zhangzhang Lan

11

1 reference

31 July 2017

Ming Qi

12

1 reference

31 July 2017

Jinming Wang

13

1 reference

31 July 2017

Yi Yang

14

1 reference

31 July 2017

Yuxing Chu

15

1 reference

31 July 2017

Xiaoyan Li

16

1 reference

31 July 2017

Yanfang Guang

17

1 reference

31 July 2017

Jian Huang

18

1 reference

31 July 2017

language of work or name

English

0 references

publication date

21 December 2011

1 reference

31 July 2017

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31 July 2017

6

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31 July 2017

12

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31 July 2017

e29500

1 reference

Creative Commons Attribution 4.0 International

31 July 2017

start time

21 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Efficient and cost effective population resequencing by pooling and in-solution hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

High-quality DNA sequence capture of 524 disease candidate genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Carrier testing for severe childhood recessive diseases by next-generation sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Rapid quantification of DNA libraries for next-generation sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Accurate detection and genotyping of SNPs utilizing population sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Target-enrichment strategies for next-generation sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Sequencing technologies - the next generation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Microdroplet-based PCR enrichment for large-scale targeted sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Targeted capture and massively parallel sequencing of 12 human exomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Fast and accurate short read alignment with Burrows-Wheeler transform

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

SNP detection for massively parallel whole-genome resequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

The diploid genome sequence of an Asian individual

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Promoter methylation of the secreted frizzled-related protein 1 gene SFRP1 is frequent in hepatocellular carcinoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

The International HapMap Project

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Amplification efficiency of thermostable DNA polymerases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

DNA Pooling: a tool for large-scale association studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

The structure and evolution of the human beta-globin gene family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029500

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029500

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244462

Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22216297

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Single nucleotide polymorphism determination using primer extension and time-of-flight mass spectrometry

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22216297

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

CpG islands: features and distribution in the genomes of vertebrates

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22216297

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0029500

1 reference

31 July 2017

0 references

1 reference

31 July 2017

1 reference