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38 records – page 1 of 4.

[A complex approach to evaluation of human genome instability].

https://arctichealth.org/en/permalink/ahliterature168018
Source
Vestn Ross Akad Med Nauk. 2006;(4):36-41
Publication Type
Article
Date
2006
Author
Iu A Revazova
L V Khripach
I E Sidorova
V V Iurchenko
I E Zykova
Source
Vestn Ross Akad Med Nauk. 2006;(4):36-41
Date
2006
Language
Russian
Publication Type
Article
Keywords
Genome, Human - genetics
Human Genome Project
Humans
Mutagenesis - genetics
Occupational Diseases - genetics
Occupational Exposure
Oxidative Stress - physiology
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Russia
Abstract
In this study, evaluation of genome instability in individuals exposed to chemical compounds included detection of the genetic polymorphism of some xenobiotic metabolic enzymes (CYP1A1, CYP1E1, PON1, GSTM1, GSTT1), as well as measurement of oxidative state chemiluminescent variables and the level of cytogenetic damage. According to the study, the level of chromosomal aberrations in peripheral blood lymphocytes shows a strong correlation with PON54 left allele and GSTM1 null genotype, and can be described by the polynomial function of blood plasma luminol-dependent chemiluminescence. The frequencies of micronuclei in buccal epithelium displayed a weak association with GSTT1 null genotype.
PubMed ID
16889354 View in PubMed
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Cancer genomics: technology, discovery, and translation.

https://arctichealth.org/en/permalink/ahliterature127674
Source
J Clin Oncol. 2012 Feb 20;30(6):647-60
Publication Type
Article
Date
Feb-20-2012
Author
Ben Tran
Janet E Dancey
Suzanne Kamel-Reid
John D McPherson
Philippe L Bedard
Andrew M K Brown
Tong Zhang
Patricia Shaw
Nicole Onetto
Lincoln Stein
Thomas J Hudson
Benjamin G Neel
Lillian L Siu
Author Affiliation
FRCPC, Princess Margaret Hospital, Drug Development Program, 610 University Ave, Ste 5-718, Toronto, Ontario, M5G 2M9, Canada.
Source
J Clin Oncol. 2012 Feb 20;30(6):647-60
Date
Feb-20-2012
Language
English
Publication Type
Article
Keywords
Chromosome Aberrations
Chromosome Mapping
Computational Biology
DNA Mutational Analysis
Epigenesis, Genetic
Gene Expression Regulation, Neoplastic - genetics
Genetic Association Studies
Genetic Techniques - ethics - standards
Genomics - ethics - methods
Genotyping Techniques
High-Throughput Nucleotide Sequencing
Human Genome Project
Humans
Molecular Biology - methods - standards
Neoplasms - genetics
Ontario
Protein Biosynthesis
Abstract
In recent years, the increasing awareness that somatic mutations and other genetic aberrations drive human malignancies has led us within reach of personalized cancer medicine (PCM). The implementation of PCM is based on the following premises: genetic aberrations exist in human malignancies; a subset of these aberrations drive oncogenesis and tumor biology; these aberrations are actionable (defined as having the potential to affect management recommendations based on diagnostic, prognostic, and/or predictive implications); and there are highly specific anticancer agents available that effectively modulate these targets. This article highlights the technology underlying cancer genomics and examines the early results of genome sequencing and the challenges met in the discovery of new genetic aberrations. Finally, drawing from experiences gained in a feasibility study of somatic mutation genotyping and targeted exome sequencing led by Princess Margaret Hospital-University Health Network and the Ontario Institute for Cancer Research, the processes, challenges, and issues involved in the translation of cancer genomics to the clinic are discussed.
Notes
Erratum In: J Clin Oncol. 2012 Apr 1;30(10):1149
PubMed ID
22271477 View in PubMed
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The chromosome-centric human proteome project at FEBS Congress.

https://arctichealth.org/en/permalink/ahliterature257838
Source
Proteomics. 2014 Feb;14(2-3):147-52
Publication Type
Conference/Meeting Material
Article
Date
Feb-2014
Author
Elena Ponomarenko
Ancha Baranova
Andrey Lisitsa
Juan Pablo Albar
Alexander Archakov
Author Affiliation
Institute of Biomedical Chemistry, Moscow, Russia; RHUPO, Russian Human Proteome Organization, Moscow, Russia.
Source
Proteomics. 2014 Feb;14(2-3):147-52
Date
Feb-2014
Language
English
Publication Type
Conference/Meeting Material
Article
Keywords
Animals
Chromosomes, Human - genetics
Human Genome Project
Humans
Mass Spectrometry - methods
Proteome - analysis - genetics
Proteomics - methods
Russia
Abstract
In the summer of 2013, distinguished global representatives of proteome science gathered to discuss the futuristic visions of the chromosome-centric human proteome project (C-HPP) (Cochairs: Y. K. Paik, G. Omenn; hosted by A. Archakov, Institute of Biomedical Chemistry, Russia) that was broadcast to the annual Federation of European Biochemical Societies Congress (St. Petersburg, Russia, July 10-11, 2013). Technology breakthroughs presented included a new ultra-sensitive Tribrid mass-spectrometer from Thermo and SOMAmers-Slow Off-rate Modified Aptamers (SOMAlogic, USA), a new type of protein capture reagents. Professor Archakov's group introduced the "rectangle" concept of proteome size as a product of proteome width and depth. The discussion on proteome width culminated with the introduction of digital biomarkers-low-copied aberrant proteins that differ from their typical forms by PTMs, alternative splicing, or single amino acid polymorphisms. The aberrant proteoforms, a complement to whole-genome proteomic surveys, were presented as an ultimate goal for the proteomic community.
PubMed ID
24285571 View in PubMed
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Source
Nat Genet. 2001 Aug;28(4):297-8
Publication Type
Article
Date
Aug-2001

[Do we need a Finnish biobank? Availability of epidemiologic data should benefit everybody].

https://arctichealth.org/en/permalink/ahliterature177820
Source
Duodecim. 2004;120(14):1710-2
Publication Type
Article
Date
2004
Author
Aarno Palotie
Leena Peltonen-Palotie
Author Affiliation
Suomen genomikeskus, Helsingin yliopisto. aarno.palotie@helsinki.fi
Source
Duodecim. 2004;120(14):1710-2
Date
2004
Language
Finnish
Publication Type
Article
Keywords
Female
Finland
Genetic Predisposition to Disease - epidemiology
Human Genome Project
Humans
Male
Registries
Tissue Banks
PubMed ID
15497303 View in PubMed
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The effective size of the Icelandic population and the prospects for LD mapping: inference from unphased microsatellite markers.

https://arctichealth.org/en/permalink/ahliterature169080
Source
Eur J Hum Genet. 2006 Sep;14(9):1044-53
Publication Type
Article
Date
Sep-2006
Author
Thomas Bataillon
Thomas Mailund
Steinunn Thorlacius
Eirikur Steingrimsson
Thorunn Rafnar
Magnus M Halldorsson
Violeta Calian
Mikkel H Schierup
Author Affiliation
Bioinformatics Research Center, University of Aarhus, Høegh-Guldbergs Gade 10, DK-8000 Aarhus C, Denmark. tbata@daimi.au.dk
Source
Eur J Hum Genet. 2006 Sep;14(9):1044-53
Date
Sep-2006
Language
English
Publication Type
Article
Keywords
Biological Evolution
Female
Genetics, Population
Human Genome Project
Humans
Iceland
Linkage Disequilibrium
Male
Microsatellite Repeats
Polymorphism, Single Nucleotide
Population Density
Recombination, Genetic
Abstract
Characterizing the extent of linkage disequilibrium (LD) in the genome is a pre-requisite for association mapping studies. Patterns of LD also contain information about the past demography of populations. In this study, we focus on the Icelandic population where LD was investigated in 12 regions of approximately 15 cM using regularly spaced microsatellite loci displaying high heterozygosity. A total of 1753 individuals were genotyped for 179 markers. LD was estimated using a composite disequilibrium measure based on unphased data. LD decreases with distance in all 12 regions and more LD than expected by chance can be detected over approximately 4 cM in our sample. Differences in the patterns of decrease of LD with distance among genomic regions were mostly due to two regions exhibiting, respectively, higher and lower proportions of pairs in LD than average within the first 4 cM. We pooled data from all regions, except these two and summarized patterns of LD by computing the proportion of pairs of loci exhibiting significant LD (at the 5% level) as a function of distance. We compared observed patterns of LD with simulated data sets obtained under scenarios with varying demography and intensity of recombination. We show that unphased data allow to make inferences on scaled recombination rates from patterns of LD. Patterns of LD in Iceland suggest a genome-wide scaled recombination rate of rho* = 200 (130-330) per cM (or an effective size of roughly 5000), in the low range of estimates recently reported in three populations from the HapMap project.
PubMed ID
16736029 View in PubMed
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Ethical aspects of genome diversity research: genome research into cultural diversity or cultural diversity in genome research?

https://arctichealth.org/en/permalink/ahliterature156389
Source
Med Health Care Philos. 2009 Mar;12(1):25-34
Publication Type
Article
Date
Mar-2009
Author
Ilhan Ilkilic
Norbert W Paul
Author Affiliation
Institute for History, Philosophy and Ethics of Medicine, Johannes Gutenberg University, Mainz, Germany. ilkilic@uni-mainz.de
Source
Med Health Care Philos. 2009 Mar;12(1):25-34
Date
Mar-2009
Language
English
Publication Type
Article
Keywords
Cultural Diversity
Databases, Nucleic Acid - ethics - organization & administration
Ethics, Medical
Ethics, Research
Ethnic Groups - genetics
Genetic Testing - ethics - organization & administration
Human Genome Project - ethics - organization & administration
Humans
Morals
Personal Autonomy
Social Values
Abstract
The goal of the Human Genome Diversity Project (HGDP) was to reconstruct the history of human evolution and the historical and geographical distribution of populations with the help of scientific research. Through this kind of research, the entire spectrum of genetic diversity to be found in the human species was to be explored with the hope of generating a better understanding of the history of humankind. An important part of this genome diversity research consists in taking blood and tissue samples from indigenous populations. For various reasons, it has not been possible to execute this project in the planned scope and form to date. Nevertheless, genomic diversity research addresses complex issues which prove to be highly relevant from the perspective of research ethics, transcultural medical ethics, and cultural philosophy. In the article at hand, we discuss these ethical issues as illustrated by the HGDP. This investigation focuses on the confrontation of culturally diverse images of humans and their cosmologies within the framework of genome diversity research and the ethical questions it raises. We argue that in addition to complex questions pertaining to research ethics such as informed consent and autonomy of probands, genome diversity research also has a cultural-philosophical, meta-ethical, and phenomenological dimension which must be taken into account in ethical discourses. Acknowledging this fact, we attempt to show the limits of current guidelines used in international genome diversity studies, following this up by a formulation of theses designed to facilitate an appropriate inquiry and ethical evaluation of intercultural dimensions of genome research.
PubMed ID
18592399 View in PubMed
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[From pedigree analysis to gene defects].

https://arctichealth.org/en/permalink/ahliterature213002
Source
Duodecim. 1996;112(4):297-305
Publication Type
Article
Date
1996
Author
J. Kere
O P Kallioniemi
Author Affiliation
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
Source
Duodecim. 1996;112(4):297-305
Date
1996
Language
Finnish
Publication Type
Article
Keywords
Finland
Genetic Diseases, Inborn - diagnosis
Genetics, Medical - methods
Human Genome Project
Humans
Molecular Probe Techniques
Pedigree
Sensitivity and specificity
PubMed ID
10590646 View in PubMed
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38 records – page 1 of 4.