Cargando…

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

Investigating genomic structural variants at basepair resolution is crucial for understanding their formation mechanisms. We identify and analyze 8,943 deletion breakpoints in 1,092 samples from the 1000 Genomes Project. We find breakpoints have more nearby SNPs and indels than the genomic average,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Abyzov, Alexej, Li, Shantao, Kim, Daniel Rhee, Mohiyuddin, Marghoob, Stütz, Adrian M., Parrish, Nicholas F., Mu, Xinmeng Jasmine, Clark, Wyatt, Chen, Ken, Hurles, Matthew, Korbel, Jan O., Lam, Hugo Y. K., Lee, Charles, Gerstein, Mark B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451611/ https://www.ncbi.nlm.nih.gov/pubmed/26028266 http://dx.doi.org/10.1038/ncomms8256

Ejemplares similares

An integrated map of genetic variation from 1,092 human genomes
Publicado: (2012)

AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision
por: Abyzov, Alexej, et al.
Publicado: (2011)

Breast cancer characteristics and HIV among 1,092 women in Soweto, South Africa
por: Cubasch, Herbert, et al.
Publicado: (2013)

Understanding genome structural variations
por: Abyzov, Alexej, et al.
Publicado: (2015)

PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data
por: Korbel, Jan O, et al.
Publicado: (2009)

Landscape and variation of novel retroduplications in 26 human populations
por: Zhang, Yan, et al.
Publicado: (2017)

VarSim: a high-fidelity simulation and validation framework for high-throughput genome sequencing with cancer applications
por: Mu, John C., et al.
Publicado: (2015)

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing
por: Mohiyuddin, Marghoob, et al.
Publicado: (2015)

Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis
por: Dhokarh, Dhananjay, et al.
Publicado: (2016)

LongAGE: defining breakpoints of genomic structural variants through optimal and memory efficient alignments of long reads
por: Tran, Quang, et al.
Publicado: (2020)

Long Term Outcomes Following Hospital Admission for Sepsis Using Relative Survival Analysis: A Prospective Cohort Study of 1,092 Patients with 5 Year Follow Up
por: Davis, Joshua S., et al.
Publicado: (2014)

Molecular medicine tumor board: whole-genome sequencing to inform on personalized medicine for a man with advanced prostate cancer
por: Armstrong, Andrew J., et al.
Publicado: (2021)

An extreme Fe II emitter: the narrow line quasar PHL 1092
por: Bergeron, J, et al.
Publicado: (1980)

Natural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution
por: Lyon, Kenneth F., et al.
Publicado: (2015)

Fast detection of deletion breakpoints using quantitative PCR
por: Abildinova, Gulshara, et al.
Publicado: (2016)

Breakpoint junction features of seven DMD deletion mutations
por: Keegan, Niall P., et al.
Publicado: (2019)

1092. Adenovirus-Based Vaccine Prevents Pneumonia in Ferrets Challenged with the SARS Coronavirus
Publicado: (2005)

SG-APSIC1092: Bundled preoperative preparation reduced surgical-site infections
por: Kaewtatip, Nittaya, et al.
Publicado: (2023)

Title unknown, CERN-ALEPH-98-092
por: CERN. Geneva. ALEPH
Publicado: (1998)

Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms
por: Haraksingh, Rajini R., et al.
Publicado: (2011)

Genomics and Privacy: Implications of the New Reality of Closed Data for the Field
por: Greenbaum, Dov, et al.
Publicado: (2011)

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
por: Sadikovic, Bekim, et al.
Publicado: (2010)

O092: Clean hands: an university extension project
por: Tipple, AFV, et al.
Publicado: (2013)

Assessing the quality of operation notes: a review of 1092 operation notes in 9 UK hospitals
por: Blackburn, Julia
Publicado: (2016)

Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements
por: de Smith, Adam J., et al.
Publicado: (2008)

Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints
por: Dong, Dawei W, et al.
Publicado: (2014)

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
por: Sadikovic, Bekim, et al.
Publicado: (2017)

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
por: Shi, Lisong, et al.
Publicado: (2019)

Thermodynamic analysis of DNA hybridization signatures near mitochondrial DNA deletion breakpoints
por: Lakshmanan, Lakshmi Narayanan, et al.
Publicado: (2021)

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
por: Rendtorff, Nanna Dahl, et al.
Publicado: (2022)

AB092. Present situation and progress on kidney transplantation in China
por: Tian, Ye
Publicado: (2015)

SAT092 A Case Of Mature Onset Diabetes Of The Young
por: Beshay, Lauren, et al.
Publicado: (2023)

P092 Automation in Equipment Asset Management for Laboratory Efficiencies
por: Hartnett, C, et al.
Publicado: (2023)

Analysis of Combinatorial Regulation: Scaling of Partnerships between Regulators with the Number of Governed Targets
por: Bhardwaj, Nitin, et al.
Publicado: (2010)

Chromatin organization modulates the origin of heritable structural variations in human genome
por: Roychowdhury, Tanmoy, et al.
Publicado: (2019)

Erratum to: Assessing the quality of operation notes: a review of 1092 operation notes in 9 UK hospitals
Publicado: (2016)

Impacts of perianal disease and faecal incontinence on quality of life and employment in 1092 patients with inflammatory bowel disease
por: Vollebregt, P. F., et al.
Publicado: (2018)

1092. Impact of Relieving Infectious Diseases Fellows from Off-Hour/Weekend Antimicrobial Stewardship Coverage
por: Lee, Matthew S L, et al.
Publicado: (2019)

Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods
por: Mu, John C., et al.
Publicado: (2015)

AB092. Is abnormal expression of semenogelin I involved with seminal vesiculitis?
por: Liu, Bian-Jiang, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_9mb5uuj9lpmubf64i5pu22r1vh