LIVIVO - Search results -

Search results

Result 1 - 10 of total 98

Search options

Article ; Online: Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.

Fahiminiya, Somayyeh / Oikonomopoulos, Spyros / Rivard, Georges-Etienne / Gandhi, Mira / Scott, Patrick / Montpetit, Alexandre / Chen, Shu-Huang / Park, KyungHee / Vezina, Catherine / Ragoussis, Jiannis / Carvalho, Claudia M B / Mitchell, Grant A / Soucy, Jean-Francois / Gauthier, Julie

Haemophilia : the official journal of the World Federation of Hemophilia

2023 Volume 29, Issue 3, Page(s) 921–924

MeSH term(s)	Humans ; Hemophilia A/genetics ; Factor VIII/genetics ; Chromosome Inversion ; Chromosome Mapping ; Mutation ; Introns
Chemical Substances	Factor VIII (9001-27-8)
Language	English
Publishing date	2023-03-10
Publishing country	England
Document type	Letter
ZDB-ID	1229713-6
ISSN	1365-2516 ; 1351-8216 ; 1355-0691
ISSN (online)	1365-2516
ISSN	1351-8216 ; 1355-0691
DOI	10.1111/hae.14771
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 4249: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 450: Show issues

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article ; Online: RNA-Seq as a Tool to Study the Tumor Microenvironment.

Panichnantakul, Pudchalaluck / Bourgey, Mathieu / Montpetit, Alexandre / Bourque, Guillaume / Riazalhosseini, Yasser

Methods in molecular biology (Clifton, N.J.)

2016 Volume 1458, Page(s) 311–337

Abstract: The transcriptome is composed of different types of RNA molecules including mRNAs, tRNAs, rRNAs, and other noncoding RNAs that are found inside a cell at a given time. Analyzing transcriptome patterns can shed light on the functional state of the cell as ...

Abstract	The transcriptome is composed of different types of RNA molecules including mRNAs, tRNAs, rRNAs, and other noncoding RNAs that are found inside a cell at a given time. Analyzing transcriptome patterns can shed light on the functional state of the cell as well as on the dynamics of cellular behavior associated with genomic and environmental changes. Likewise, transcriptome analysis has been a major help in solving biological issues and understanding the molecular basis of many diseases including human cancers. Specifically, since targeted and whole genome sequencing studies are becoming more common in identifying the driving factors of cancer, a comprehensive and high-resolution analysis of the transcriptome, as provided by RNA-Sequencing (RNA-Seq), plays a key role in investigating the functional relevance of the identified genomic aberrations. Here, we describe experimental procedures of RNA-Seq and downstream data processing and analysis, with a focus on the identification of abnormally expressed transcripts and genes.
Language	English
Publishing date	2016
Publishing country	United States
Document type	Journal Article
ISSN	1940-6029
ISSN (online)	1940-6029
DOI	10.1007/978-1-4939-3801-8_22
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: A full molecular picture of F8 intron 1 inversion created with optical genome mapping.

Fahiminiya, Somayyeh / Rivard, Georges-Etienne / Scott, Patrick / Montpetit, Alexandre / Bacot, François / St-Louis, Jean / Mitchell, Grant A / Foulkes, William D / Soucy, Jean-Francois / Gauthier, Julie

Haemophilia : the official journal of the World Federation of Hemophilia

2021 Volume 27, Issue 5, Page(s) e638–e640

MeSH term(s)	Chromosome Inversion ; Chromosome Mapping ; Factor VIII/genetics ; Hemophilia A/genetics ; Humans ; Introns/genetics
Chemical Substances	Factor VIII (9001-27-8)
Language	English
Publishing date	2021-07-07
Publishing country	England
Document type	Letter
ZDB-ID	1229713-6
ISSN	1365-2516 ; 1351-8216 ; 1355-0691
ISSN (online)	1365-2516
ISSN	1351-8216 ; 1355-0691
DOI	10.1111/hae.14375
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 4249: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 450: Show issues

Order via subito

Details ▾

Article: La Carte d'Haplotype du génome humain: Une révolution en génétique des maladies à hérédité complexe.

Montpetit, Alexandre / Chagnon, Fanny

Medecine sciences : M/S

2006 Volume 22, Issue 12, Page(s) 1061–1067

Abstract: More than 99.9 % of the sequence is identical when comparing the DNA from two individuals. The remaining 0.1 % is responsible, along with other factors such as the environment, for the risk level of developing complex diseases (such as asthma, diabetes ... ...

Title translation	The Haplotype Map of the human genome: a revolution in the genetics of complex diseases.
Abstract	More than 99.9 % of the sequence is identical when comparing the DNA from two individuals. The remaining 0.1 % is responsible, along with other factors such as the environment, for the risk level of developing complex diseases (such as asthma, diabetes or cancer) or for the different pharmacological response to drugs. Despite the incredible advances in genomics in the past few years, identifying the variants involved remains difficult because of the prodigious amount of information to process. The recent completion of the Haplotype Map of the human genome has raised great hopes in the field as it is expected to help reduce the complexity of association studies and thus accelerate the discovery of genes associated with complex diseases. This review details the rationale behind the HapMap project, gives a summary of the results and also describes potential applications of the Haplotype Map.
MeSH term(s)	Asthma/genetics ; Chromosome Mapping ; Chromosomes, Human, Pair 2 ; Diabetes Mellitus/genetics ; Genetic Diseases, Inborn/genetics ; Genome, Human ; Genotype ; Humans ; Linkage Disequilibrium ; Neoplasms/genetics
Language	French
Publishing date	2006-12
Publishing country	France
Document type	English Abstract ; Journal Article ; Review
ZDB-ID	632733-3
ISSN	1958-5381 ; 0767-0974
ISSN (online)	1958-5381
ISSN	0767-0974
DOI	10.1051/medsci/200622121061
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 2872: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Disruption of Mycobacterium avium subsp. paratuberculosis-specific genes impairs in vivo fitness.

Wang, Joyce / Pritchard, Justin R / Kreitmann, Louis / Montpetit, Alexandre / Behr, Marcel A

BMC genomics

2014 Volume 15, Page(s) 415

Abstract: Background: Mycobacterium avium subsp. paratuberculosis (MAP) is an obligate intracellular pathogen that infects many ruminant species. The acquisition of foreign genes via horizontal gene transfer has been postulated to contribute to its pathogenesis, ... ...

Abstract	Background: Mycobacterium avium subsp. paratuberculosis (MAP) is an obligate intracellular pathogen that infects many ruminant species. The acquisition of foreign genes via horizontal gene transfer has been postulated to contribute to its pathogenesis, as these genetic elements are absent from its putative ancestor, M. avium subsp. hominissuis (MAH), an environmental organism with lesser pathogenicity. In this study, high-throughput sequencing of MAP transposon libraries were analyzed to qualitatively and quantitatively determine the contribution of individual genes to bacterial survival during infection. Results: Out of 52384 TA dinucleotides present in the MAP K-10 genome, 12607 had a MycoMarT7 transposon in the input pool, interrupting 2443 of the 4350 genes in the MAP genome (56%). Of 96 genes situated in MAP-specific genomic islands, 82 were disrupted in the input pool, indicating that MAP-specific genomic regions are dispensable for in vitro growth (odds ratio = 0.21). Following 5 independent in vivo infections with this pool of mutants, the correlation between output pools was high for 4 of 5 (R = 0.49 to 0.61) enabling us to define genes whose disruption reproducibly reduced bacterial fitness in vivo. At three different thresholds for reduced fitness in vivo, MAP-specific genes were over-represented in the list of predicted essential genes. We also identified additional genes that were severely depleted after infection, and several of them have orthologues that are essential genes in M. tuberculosis. Conclusions: This work indicates that the genetic elements required for the in vivo survival of MAP represent a combination of conserved mycobacterial virulence genes and MAP-specific genes acquired via horizontal gene transfer. In addition, the in vitro and in vivo essential genes identified in this study may be further characterized to offer a better understanding of MAP pathogenesis, and potentially contribute to the discovery of novel therapeutic and vaccine targets.
MeSH term(s)	Animals ; Bacterial Proteins/genetics ; Bacterial Proteins/metabolism ; DNA Transposable Elements ; DNA, Bacterial/metabolism ; Gene Expression Regulation, Bacterial ; Gene Transfer, Horizontal ; Genes, Essential ; Genetic Fitness ; High-Throughput Nucleotide Sequencing ; Mice ; Mice, Inbred C57BL ; Mycobacterium avium subsp. paratuberculosis/genetics ; Mycobacterium avium subsp. paratuberculosis/physiology ; Paratuberculosis/microbiology ; Phylogeny ; Sequence Analysis, DNA
Chemical Substances	Bacterial Proteins ; DNA Transposable Elements ; DNA, Bacterial
Language	English
Publishing date	2014-05-31
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1471-2164
ISSN (online)	1471-2164
DOI	10.1186/1471-2164-15-415
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: What can exome sequencing do for you?

Majewski, Jacek / Schwartzentruber, Jeremy / Lalonde, Emilie / Montpetit, Alexandre / Jabado, Nada

Journal of medical genetics

2011 Volume 48, Issue 9, Page(s) 580–589

Abstract: Recent advances in next-generation sequencing technologies have brought a paradigm shift in how medical researchers investigate both rare and common human disorders. The ability cost-effectively to generate genome-wide sequencing data with deep coverage ... ...

Abstract	Recent advances in next-generation sequencing technologies have brought a paradigm shift in how medical researchers investigate both rare and common human disorders. The ability cost-effectively to generate genome-wide sequencing data with deep coverage in a short time frame is replacing approaches that focus on specific regions for gene discovery and clinical testing. While whole genome sequencing remains prohibitively expensive for most applications, exome sequencing--a technique which focuses on only the protein-coding portion of the genome--places many advantages of the emerging technologies into researchers' hands. Recent successes using this technology have uncovered genetic defects with a limited number of probands regardless of shared genetic heritage, and are changing our approach to Mendelian disorders where soon all causative variants, genes and their relation to phenotype will be uncovered. The expectation is that, in the very near future, this technology will enable us to identify all the variants in an individual's personal genome and, in particular, clinically relevant alleles. Beyond this, whole genome sequencing is also expected to bring a major shift in clinical practice in terms of diagnosis and understanding of diseases, ultimately enabling personalised medicine based on one's genome. This paper provides an overview of the current and future use of next generation sequencing as it relates to whole exome sequencing in human disease by focusing on the technical capabilities, limitations and ethical issues associated with this technology in the field of genetics and human disease.
MeSH term(s)	Animals ; Exome ; Genetic Predisposition to Disease ; Genetic Variation ; Genome ; Genome-Wide Association Study ; Humans ; Mutation ; Neoplasms/genetics ; Sequence Analysis, DNA/methods
Language	English
Publishing date	2011-09
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2011-100223
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 177: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Isolation of cosmid and BAC DNA from E. coli.

Sinnett, Daniel / Montpetit, Alexandre

Methods in molecular biology (Clifton, N.J.)

2003 Volume 235, Page(s) 99–102

MeSH term(s)	Chromosomes, Artificial, Bacterial/genetics ; Cosmids/isolation & purification ; DNA, Bacterial/genetics ; DNA, Bacterial/isolation & purification ; Detergents ; Electrophoresis, Agar Gel ; Escherichia coli/genetics ; Genetic Techniques ; Sarcosine/analogs & derivatives
Chemical Substances	DNA, Bacterial ; Detergents ; sarkosyl (632GS99618) ; Sarcosine (Z711V88R5F)
Language	English
Publishing date	2003
Publishing country	United States
Document type	Journal Article
ISSN	1064-3745
ISSN	1064-3745
DOI	10.1385/1-59259-409-3:99
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Integrative genomic analysis of matched primary and metastatic pediatric osteosarcoma.

Negri, Gian Luca / Grande, Bruno M / Delaidelli, Alberto / El-Naggar, Amal / Cochrane, Dawn / Lau, Ching C / Triche, Timothy J / Moore, Richard A / Jones, Steven Jm / Montpetit, Alexandre / Marra, Marco A / Malkin, David / Morin, Ryan D / Sorensen, Poul H

The Journal of pathology

2019 Volume 249, Issue 3, Page(s) 319–331

Abstract: Despite being the most common childhood bone tumor, the genomic characterization of osteosarcoma remains incomplete. In particular, very few osteosarcoma metastases have been sequenced to date, critical to better understand mechanisms of progression and ... ...

Abstract	Despite being the most common childhood bone tumor, the genomic characterization of osteosarcoma remains incomplete. In particular, very few osteosarcoma metastases have been sequenced to date, critical to better understand mechanisms of progression and evolution in this tumor. We performed an integrated whole genome and exome sequencing analysis of paired primary and metastatic pediatric osteosarcoma specimens to identify recurrent genomic alterations. Sequencing of 13 osteosarcoma patients including 13 primary, 10 metastatic, and 3 locally recurring tumors revealed a highly heterogeneous mutational landscape, including cases of hypermutation and microsatellite instability positivity, but with virtually no recurrent alterations except for mutations involving the tumor suppressor genes RB1 and TP53. At the germline level, we detected alterations in multiple cancer related genes in the majority of the cohort, including those potentially disrupting DNA damage response pathways. Metastases retained only a minimal number of short variants from their corresponding primary tumors, while copy number alterations showed higher conservation. One recurrently amplified gene, KDR, was highly expressed in advanced cases and associated with poor prognosis. © 2019 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
MeSH term(s)	Age Factors ; Biomarkers, Tumor/genetics ; Bone Neoplasms/genetics ; Bone Neoplasms/pathology ; British Columbia ; DNA Copy Number Variations ; Female ; Gene Amplification ; Gene Dosage ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Humans ; Male ; Microsatellite Instability ; Mutation ; Neoplasm Recurrence, Local/genetics ; Neoplasm Recurrence, Local/pathology ; Osteosarcoma/genetics ; Osteosarcoma/secondary ; Phenotype ; Polymorphism, Single Nucleotide ; Transcriptome ; United States ; Whole Exome Sequencing ; Whole Genome Sequencing
Chemical Substances	Biomarkers, Tumor
Language	English
Publishing date	2019-08-28
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	3119-7
ISSN	1096-9896 ; 0022-3417
ISSN (online)	1096-9896
ISSN	0022-3417
DOI	10.1002/path.5319
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Ud II Zs.12: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation

Montpetit Alexandre / Nelis Mari / Pfeufer Arne / Mägi Reedik / Metspalu Andres / Remm Maido

BMC Genomics, Vol 8, Iss 1, p

2007 Volume 159

Abstract: Abstract Background New technologies have enabled genome-wide association studies to be conducted with hundreds of thousands of genotyped SNPs. Several different first-generation genome-wide panels of SNPs have been commercialized. The total amount of ... ...

Abstract	Abstract Background New technologies have enabled genome-wide association studies to be conducted with hundreds of thousands of genotyped SNPs. Several different first-generation genome-wide panels of SNPs have been commercialized. The total amount of common genetic variation is still unknown; however, the coverage of commercial panels can be evaluated against reference population samples genotyped by the International HapMap project. Less information is available about coverage in samples from other populations. Results In this study we compare four commercial panels: the HumanHap 300 and HumanHap 550 Array Sets from the Illumina Infinium series and the Mapping 100 K and Mapping 500 K Array Sets from the Affymetrix GeneChip series. Tagging performance is compared among HapMap CEPH (CEU), Asian (JPT, CHB) and Yoruba (YRI) population samples. It is also evaluated in an Estonian population sample with more than 1000 individuals genotyped in two 500-kbp ENCODE regions of chromosome 2: ENr112 on 2p16.3 and ENr131 on 2p37.1. Conclusion We found that in a non-reference Caucasian population, commercial SNP panels provide levels of coverage similar to those in the HapMap CEPH population sample. We present the proportions of universal and population-specific SNPs in all the commercial platforms studied.
Keywords	Genetics ; QH426-470 ; Biology (General) ; QH301-705.5 ; Science ; Q ; DOAJ:Genetics ; DOAJ:Biology ; DOAJ:Biology and Life Sciences ; Biotechnology ; TP248.13-248.65
Subject code	310
Language	English
Publishing date	2007-06-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: The Biobanque québécoise de la COVID-19 (BQC19)-A cohort to prospectively study the clinical and biological determinants of COVID-19 clinical trajectories.

Tremblay, Karine / Rousseau, Simon / Zawati, Ma'n H / Auld, Daniel / Chassé, Michaël / Coderre, Daniel / Falcone, Emilia Liana / Gauthier, Nicolas / Grandvaux, Nathalie / Gros-Louis, François / Jabet, Carole / Joly, Yann / Kaufmann, Daniel E / Laprise, Catherine / Larochelle, Catherine / Maltais, François / Mes-Masson, Anne-Marie / Montpetit, Alexandre / Piché, Alain /

Richards, J Brent / Tse, Sze Man / Turgeon, Alexis F / Turecki, Gustavo / Vinh, Donald C / Wang, Han Ting / Mooser, Vincent

PloS one

2021 Volume 16, Issue 5, Page(s) e0245031

Abstract: SARS-CoV-2 infection causing the novel coronavirus disease 2019 (COVID-19) has been responsible for more than 2.8 million deaths and nearly 125 million infections worldwide as of March 2021. In March 2020, the World Health Organization determined that ... ...

Abstract	SARS-CoV-2 infection causing the novel coronavirus disease 2019 (COVID-19) has been responsible for more than 2.8 million deaths and nearly 125 million infections worldwide as of March 2021. In March 2020, the World Health Organization determined that the COVID-19 outbreak is a global pandemic. The urgency and magnitude of this pandemic demanded immediate action and coordination between local, regional, national, and international actors. In that mission, researchers require access to high-quality biological materials and data from SARS-CoV-2 infected and uninfected patients, covering the spectrum of disease manifestations. The "Biobanque québécoise de la COVID-19" (BQC19) is a pan-provincial initiative undertaken in Québec, Canada to enable the collection, storage and sharing of samples and data related to the COVID-19 crisis. As a disease-oriented biobank based on high-quality biosamples and clinical data of hospitalized and non-hospitalized SARS-CoV-2 PCR positive and negative individuals. The BQC19 follows a legal and ethical management framework approved by local health authorities. The biosamples include plasma, serum, peripheral blood mononuclear cells and DNA and RNA isolated from whole blood. In addition to the clinical variables, BQC19 will provide in-depth analytical data derived from the biosamples including whole genome and transcriptome sequencing, proteome and metabolome analyses, multiplex measurements of key circulating markers as well as anti-SARS-CoV-2 antibody responses. BQC19 will provide the scientific and medical communities access to data and samples to better understand, manage and ultimately limit, the impact of COVID-19. In this paper we present BQC19, describe the process according to which it is governed and organized, and address opportunities for future research collaborations. BQC19 aims to be a part of a global communal effort addressing the challenges of COVID-19.
MeSH term(s)	Biological Specimen Banks/organization & administration ; COVID-19/epidemiology ; COVID-19/genetics ; COVID-19/metabolism ; COVID-19/pathology ; Humans ; Information Dissemination/methods ; Pandemics ; Quebec/epidemiology ; SARS-CoV-2/isolation & purification
Language	English
Publishing date	2021-05-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0245031
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

Inter-library loan at ZB MED