Cargando…

Discovery of common sequences absent in the human reference genome using pooled samples from next generation sequencing

BACKGROUND: Sequences up to several megabases in length have been found to be present in individual genomes but absent in the human reference genome. These sequences may be common in populations, and their absence in the reference genome may indicate rare variants in the genomes of individuals who s...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Yu, Koyutürk, Mehmet, Maxwell, Sean, Xiang, Min, Veigl, Martina, Cooper, Richard S, Tayo, Bamidele O, Li, Li, LaFramboise, Thomas, Wang, Zhenghe, Zhu, Xiaofeng, Chance, Mark R
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148959/ https://www.ncbi.nlm.nih.gov/pubmed/25129063 http://dx.doi.org/10.1186/1471-2164-15-685

Ejemplares similares

Accurate estimation of short read mapping quality for next-generation genome sequencing
por: Ruffalo, Matthew, et al.
Publicado: (2012)

Detection and quantification of mitochondrial DNA deletions from next-generation sequence data
por: Bosworth, Colleen M., et al.
Publicado: (2017)

An optimization framework for unsupervised identification of rare copy number variation from SNP array data
por: Yavaş, Gökhan, et al.
Publicado: (2009)

DB(2): a probabilistic approach for accurate detection of tandem duplication breakpoints using paired-end reads
por: Yavaş, Gökhan, et al.
Publicado: (2014)

PCR-Free Enrichment of Mitochondrial DNA from Human Blood and Cell Lines for High Quality Next-Generation DNA Sequencing
por: Gould, Meetha P., et al.
Publicado: (2015)

Correction: PCR-Free Enrichment of Mitochondrial DNA from Human Blood and Cell Lines for High Quality Next-Generation DNA Sequencing
por: Gould, Meetha P., et al.
Publicado: (2016)

Sequencing of BAC pools by different next generation sequencing platforms and strategies
por: Taudien, Stefan, et al.
Publicado: (2011)

Next-Generation Sequencing Techniques Reveal that Genomic Imprinting Is Absent in Day-Old Gallus gallus domesticus Brains
por: Wang, Qiong, et al.
Publicado: (2015)

Efficient computation of absent words in genomic sequences
por: Herold, Julia, et al.
Publicado: (2008)

Correcting for sequence biases in present/absent calls
por: Schuster, Eugene F, et al.
Publicado: (2007)

Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances
por: LaFramboise, Thomas
Publicado: (2009)

Cancer gene mutation discovery and detection using array-based resequencing
por: Tengs, T, et al.
Publicado: (2005)

PoolHap: Inferring Haplotype Frequencies from Pooled Samples by Next Generation Sequencing
por: Long, Quan, et al.
Publicado: (2011)

Gene, pathway and network frameworks to identify epistatic interactions of single nucleotide polymorphisms derived from GWAS data
por: Liu, Yu, et al.
Publicado: (2012)

How do alignment programs perform on sequencing data with varying qualities and from repetitive regions?
por: Yu, Xiaoqing, et al.
Publicado: (2012)

Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering
por: Anand, Santosh, et al.
Publicado: (2016)

Integrative Analysis of Common Neurodegenerative Diseases Using Gene Association, Interaction Networks and mRNA Expression Data
por: Liu, Yu, et al.
Publicado: (2012)

MON-LB048 Delayed or Absent? Use of Next Generation Sequencing Diagnostic Tools in a UK Puberty Cohort
por: Howard, Sasha, et al.
Publicado: (2019)

The Quest for Rare Variants: Pooled Multiplexed Next Generation Sequencing in Plants
por: Marroni, Fabio, et al.
Publicado: (2012)

Detecting Selective Sweeps from Pooled Next-Generation Sequencing Samples
por: Boitard, Simon, et al.
Publicado: (2012)

Evaluation of variant detection software for pooled next-generation sequence data
por: Huang, Howard W., et al.
Publicado: (2015)

Target discovery screens using pooled shRNA libraries and next-generation sequencing: A model workflow and analytical algorithm
por: Schaefer, Christiane, et al.
Publicado: (2018)

CytoConverter: a web-based tool to convert karyotypes to genomic coordinates
por: Wang, Janet, et al.
Publicado: (2019)

Transcriptome sequencing of the Microarray Quality Control (MAQC) RNA reference samples using next generation sequencing
por: Mane, Shrinivasrao P, et al.
Publicado: (2009)

Next Generation Sequencing Technologies for Insect Virus Discovery
por: Liu, Sijun, et al.
Publicado: (2011)

Next Generation Sequencing: Potential and Application in Drug Discovery
por: Yadav, Navneet Kumar, et al.
Publicado: (2014)

On avoided words, absent words, and their application to biological sequence analysis
por: Almirantis, Yannis, et al.
Publicado: (2017)

CoPhosK: A method for comprehensive kinase substrate annotation using co-phosphorylation analysis
por: Ayati, Marzieh, et al.
Publicado: (2019)

Author Correction: Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering
por: Anand, Santosh, et al.
Publicado: (2020)

Needs Assessment for Research Use of High-Throughput Sequencing at a Large Academic Medical Center
por: Geskin, Albert, et al.
Publicado: (2015)

An Integrative -omics Approach to Identify Functional Sub-Networks in Human Colorectal Cancer
por: Nibbe, Rod K., et al.
Publicado: (2010)

SNP discovery in apple cultivars using next generation sequencing
por: Alencar, Sérgio, et al.
Publicado: (2011)

SNP Discovery through Next-Generation Sequencing and Its Applications
por: Kumar, Santosh, et al.
Publicado: (2012)

Next Generation Sequencing of Actinobacteria for the Discovery of Novel Natural Products
por: Gomez-Escribano, Juan Pablo, et al.
Publicado: (2016)

Erratum to “Next Generation Sequencing: Potential and Application in Drug Discovery”
por: Yadav, Navneet Kumar, et al.
Publicado: (2014)

Retracted: Next Generation Sequencing: Potential and Application in Drug Discovery
por: The Scientific World Journal,
Publicado: (2020)

Absent words and the (dis)similarity analysis of DNA sequences: an experimental study
por: Rahman, Mohammad Saifur, et al.
Publicado: (2016)

Genomic DNA Pooling Strategy for Next-Generation Sequencing-Based Rare Variant Discovery in Abdominal Aortic Aneurysm Regions of Interest—Challenges and Limitations
por: Harakalova, Magdalena, et al.
Publicado: (2011)

Annotation-based genome-wide SNP discovery in the large and complex Aegilops tauschii genome using next-generation sequencing without a reference genome sequence
por: You, Frank M, et al.
Publicado: (2011)

Estimating Allele Frequency from Next-Generation Sequencing of Pooled Mitochondrial DNA Samples
por: Wang, Tao, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_rloha1scri7bnrdt5l0ouhivt5