Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions

Genetics in Medicine ◽

10.1038/gim.2013.119 ◽

2013 ◽

Vol 15 (11) ◽

pp. 910-911 ◽

Author(s):

Patricia W. Mueller ◽

Justine Lyons ◽

Gregory Kerr ◽

Chad P. Haase ◽

R. Benjamin Isett

Keyword(s):

Next Generation Sequencing ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Genomic Regions ◽

Generation Sequencing ◽

Enrichment Methods

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A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

European Journal of Human Genetics ◽

10.1038/ejhg.2011.126 ◽

2011 ◽

Vol 20 (1) ◽

pp. 58-63 ◽

Author(s):

Kaja K Selmer ◽

Gregor D Gilfillan ◽

Petter Strømme ◽

Robert Lyle ◽

Timothy Hughes ◽

...

Keyword(s):

Next Generation Sequencing ◽

Next Generation ◽

Mild Form ◽

Targeted Next Generation Sequencing ◽

Genomic Regions ◽

Generation Sequencing

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HybSelect: high-throughput access to genomic regions of interest for targeted next-generation sequencing

Nature Methods ◽

10.1038/nmeth.f.266 ◽

2009 ◽

Vol 6 (9) ◽

pp. v-vi ◽

Author(s):

Daniel Summerer

Keyword(s):

Next Generation Sequencing ◽

High Throughput ◽

Regions Of Interest ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Genomic Regions ◽

Generation Sequencing

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TARGETED NEXT GENERATION SEQUENCING PID PANEL IDENTIFIES A NOVEL NONSENSE CARD11 MUTATION TREATED SUCCESSFULLY WITH PHENOIDENTICAL HEMATOPOIETIC STEM CELL TRANSPLANT WITHOUT CONDITIONING

10.26226/morressier.57bc1757d462b80290b4cfb3 ◽

2016 ◽

Author(s):

Bashayer Alrasheed

Keyword(s):

Stem Cell ◽

Next Generation Sequencing ◽

Hematopoietic Stem Cell ◽

Hematopoietic Stem Cell Transplant ◽

Stem Cell Transplant ◽

Cell Transplant ◽

Next Generation ◽

Hematopoietic Stem ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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PATHOGENIC GENETIC VARIANTS IDENTIFIED BY TARGETED NEXT-GENERATION SEQUENCING IN SOME UNDEFINED PRIMARY IMMUNODEFICIENCY CASES (IZMIR EXPERIENCE)

10.26226/morressier.594a7d45d462b8028d89348d ◽

2017 ◽

Author(s):

Kutukculer Necil

Keyword(s):

Next Generation Sequencing ◽

Primary Immunodeficiency ◽

Genetic Variants ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Faculty Opinions recommendation of Targeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumors.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718014371.793495250 ◽

2014 ◽

Author(s):

Jean-Pascal Machiels

Keyword(s):

Squamous Cell Carcinoma ◽

Next Generation Sequencing ◽

Cell Carcinoma ◽

Head And Neck ◽

Squamous Cell ◽

Genetic Alterations ◽

Neck Squamous Cell Carcinoma ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Faculty Opinions recommendation of Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718087053.793516496 ◽

2016 ◽

Author(s):

Bernard Corvilain

Keyword(s):

Thyroid Cancer ◽

Next Generation Sequencing ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Detection Of Mutations ◽

Generation Sequencing

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The mutation screening in candidate genes related to thyroid dysgenesis by targeted next‐generation sequencing panel in the Chinese congenital hypothyroidism

Clinical Endocrinology ◽

10.1111/cen.14577 ◽

2021 ◽

Author(s):

Rui‐Jia Zhang ◽

Guang‐lin Yang ◽

Feng Cheng ◽

Feng Sun ◽

Ya Fang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Candidate Genes ◽

Congenital Hypothyroidism ◽

Mutation Screening ◽

Next Generation ◽

Thyroid Dysgenesis ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Unbiased machine learning methods to predict the limitations of variant calling in homologous genomic regions using next-generation sequencing

Molecular Genetics and Metabolism ◽

10.1016/s1096-7192(21)00467-4 ◽

2021 ◽

Vol 132 ◽

pp. S250-S252

Author(s):

Feng Li ◽

Rohan Gnanaolivu ◽

Noemi Vidal-Folch ◽

Neiladri Saha ◽

Nipun Mistry ◽

...

Keyword(s):

Machine Learning ◽

Next Generation Sequencing ◽

Variant Calling ◽

Next Generation ◽

Learning Methods ◽

Machine Learning Methods ◽

Genomic Regions ◽

Generation Sequencing

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156 Identification of novel variants associated with feline hypertrophic cardiomyopathy (HCM) using targeted next-generation sequencing

Animal - science proceedings ◽

10.1016/j.anscip.2021.03.157 ◽

2021 ◽

Vol 12 (1) ◽

pp. 126

Author(s):

Jade Raffle ◽

Jose Novo Matos ◽

Perry Elliott ◽

David Connolly ◽

Virginia Luis Fuentes ◽

...

Keyword(s):

Next Generation Sequencing ◽

Hypertrophic Cardiomyopathy ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Novel Variants ◽

Generation Sequencing

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Development and application of the Faba_bean_130K targeted next-generation sequencing SNP genotyping platform based on transcriptome sequencing

Theoretical and Applied Genetics ◽

10.1007/s00122-021-03885-0 ◽

2021 ◽

Author(s):

Chenyu Wang ◽

Rong Liu ◽

Yujiao Liu ◽

Wanwei Hou ◽

Xuejun Wang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Transcriptome Sequencing ◽

Snp Genotyping ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Genotyping Platform ◽

Generation Sequencing

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