Cargando…

HDAM: a resource of human disease associated mutations from next generation sequencing studies

BACKGROUND: Next generation sequencing (NGS) technologies have greatly facilitated the rapid and economical detection of pathogenic mutations in human disorders. However, mutation descriptions are hard to be compared and integrated due to various reference sequences and annotation tools adopted in d...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jia, Meiwei, Liu, Yanli, Shen, Zhongchao, Zhao, Chen, Zhang, Meixia, Yi, Zhenghui, Wen, Chengping, Deng, Youping, Shi, Tieliu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552701/ https://www.ncbi.nlm.nih.gov/pubmed/23369322 http://dx.doi.org/10.1186/1755-8794-6-S1-S16

Ejemplares similares

Exploring the pathogenetic association between schizophrenia and type 2 diabetes mellitus diseases based on pathway analysis
por: Liu, Yanli, et al.
Publicado: (2013)

Replacements of Rare Herbs and Simplifications of Traditional Chinese Medicine Formulae Based on Attribute Similarities and Pathway Enrichment Analysis
por: Fang, Zhao, et al.
Publicado: (2013)

TCMID: traditional Chinese medicine integrative database for herb molecular mechanism analysis
por: Xue, Ruichao, et al.
Publicado: (2013)

Evaluating the Pharmacological Mechanism of Chinese Medicine Si-Wu-Tang through Multi-Level Data Integration
por: Fang, Zhao, et al.
Publicado: (2013)

TCMID 2.0: a comprehensive resource for TCM
por: Huang, Lin, et al.
Publicado: (2018)

The utilization of next-generation sequencing to detect somatic mutations and predict clinical prognosis of Chinese non-small cell lung cancer patients
por: Cao, Liming, et al.
Publicado: (2018)

Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing
por: Shi, Xin, et al.
Publicado: (2020)

Next Generation Sequencing of miRNAs – Strategies, Resources and Methods
por: Motameny, Susanne, et al.
Publicado: (2010)

Gene mutations of esophageal squamous cell carcinoma based on next-generation sequencing
por: Wang, Long, et al.
Publicado: (2021)

A roadmap for the generation of benchmarking resources for antimicrobial resistance detection using next generation sequencing
por: Petrillo, Mauro, et al.
Publicado: (2022)

EPD and EPDnew, high-quality promoter resources in the next-generation sequencing era
por: Dreos, René, et al.
Publicado: (2013)

Capture‐based next‐generation sequencing reveals multiple actionable mutations in cancer patients failed in traditional testing
por: Xie, Jing, et al.
Publicado: (2016)

Targeted next-generation sequencing for routine clinical screening of mutations
por: Weaver, Jamie MJ, et al.
Publicado: (2011)

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing
por: Ameziane, Najim, et al.
Publicado: (2012)

Mutation Scanning in Wheat by Exon Capture and Next-Generation Sequencing
por: King, Robert, et al.
Publicado: (2015)

Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations
por: Gu, Shun, et al.
Publicado: (2016)

Performance of Metagenomic Next-Generation Sequencing for the Diagnosis of Viral Meningoencephalitis in a Resource-Limited Setting
por: Hong, Nguyen Thi Thu, et al.
Publicado: (2020)

Simulating Next-Generation Sequencing Datasets from Empirical Mutation and Sequencing Models
por: Stephens, Zachary D., et al.
Publicado: (2016)

High-throughput next-generation sequencing technologies foster new cutting-edge computing techniques in bioinformatics
por: Yang, Mary Qu, et al.
Publicado: (2009)

Next-Generation Sequencing
por: Xiong, Momiao, et al.
Publicado: (2010)

Next-generation sequencing
por: Reis-Filho, Jorge S
Publicado: (2009)

Deciphering the Potential Pharmaceutical Mechanism of Chinese Traditional Medicine (Gui-Zhi-Shao-Yao-Zhi-Mu) on Rheumatoid Arthritis
por: Huang, Lin, et al.
Publicado: (2016)

A Systems Biology-Based Investigation into the Pharmacological Mechanisms of Sheng-ma-bie-jia-tang Acting on Systemic Lupus Erythematosus by Multi-Level Data Integration
por: Huang, Lin, et al.
Publicado: (2015)

Personalizing Chinese medicine by integrating molecular features of diseases and herb ingredient information: application to acute myeloid leukemia
por: Huang, Lin, et al.
Publicado: (2017)

Mutation Profiling of Malignant Lymphoma by Next-Generation Sequencing of Circulating Cell-Free DNA
por: Sun, Peng, et al.
Publicado: (2019)

The utility of sputum supernatant as an alternative liquid biopsy specimen for next-generation sequencing-based somatic variation profiling
por: Qin, Ling, et al.
Publicado: (2022)

Next generation sequencing technologies for next generation plant breeding
por: Ray, Soham, et al.
Publicado: (2014)

NGSNGS: next-generation simulator for next-generation sequencing data
por: Henriksen, Rasmus Amund, et al.
Publicado: (2023)

A transcriptional dynamic network during Arabidopsis thaliana pollen development
por: Wang, Jigang, et al.
Publicado: (2011)

Nucleosome structure incorporated histone acetylation site prediction in arabidopsis thaliana
por: Zhao, Chen, et al.
Publicado: (2010)

Clinical evaluation of integrated panel testing by next-generation sequencing for somatic mutations in neuroblastomas with MYCN unamplification
por: Cao, Yanna, et al.
Publicado: (2017)

MiPanda: A Resource for Analyzing and Visualizing Next-Generation Sequencing Transcriptomics Data
por: Niknafs, Yashar S., et al.
Publicado: (2018)

Next generation sequencing technologies to explore the diversity of germplasm resources: Achievements and trends in tomato
por: Tripodi, Pasquale
Publicado: (2022)

Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing
por: Lokhandwala, Parvez M., et al.
Publicado: (2019)

Comprehensive Mutation Profiling of Colorectal Cancer Patients With Lung or Liver Metastasis by Targeted Next-Generation Sequencing
por: Hu, Chun-Ting, et al.
Publicado: (2023)

Next generation sequencing in synovial sarcoma reveals novel gene mutations
por: Vlenterie, Myrella, et al.
Publicado: (2015)

Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing
por: Sakai, Kazuko, et al.
Publicado: (2015)

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
por: Fox, Alan J., et al.
Publicado: (2016)

Clinical mutational profiling of 1006 lung cancers by next generation sequencing
por: Illei, Peter B., et al.
Publicado: (2017)

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing
por: Yu, Meng, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_3fdubia1f2avjsimbp3jo85a7d