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Books > Medicine > Pre-clinical medicine: basic sciences > General
Genomics is the study of the genomes of organisms. The field
includes intensive efforts to determine the entire DNA sequence of
organisms and fine-scale genetic mapping efforts. It is a
discipline in genetics that applies recombinant DNA, DNA sequencing
methods, and bioinformatics to sequence, assemble, and analyse the
function and structure of genomes. Genomics III - Methods,
Techniques and Applications is the last volume of our Genomics
series.
Chapter 1 presents an overview of exome sequencing technology and
details its use in identification of molecular bases of rare
diseases in human.
Chapter 2 describes and compares different methods of whole genome
amplification (WGA) for replenishing DNA samples for genetic
studies.
Chapter 3 ilustrates the method of whole genome microarray gene
expression profiling and its application to study the treatment
effect of a widely used cardiovascular drug.
Chapter 4 describes a brief history of large-insert libraries and
their utility in exploring organisms with poor genetic and genome
information.
Chapter 5 proposes a bio-molecular approach for the evaluation of
the anaerobic digestion performance.
In Chapter 6, quantitative issues of the transposon-based gene
delivery methods are addressed. Using the "Sleeping Beauty"
transposon system as a prominent example, special detailed focus is
given to copy number determination and to transposon excision
efficiency quantification by real-time PCR based methodologies.
Chapter 7 provides an overview of extraction of a compendium of
sequence and structural features, as well as the methodology for
function prediction based on the techniques from Artificial
Intelligence and Machine learning.
Chapter 8 presents a statistical method and a data mining solution
for the problem of insertion site analysis and characterization of
Alu elements
Chapter 9 investigates how Mutual Information (MI) can be used to
improve methods of predicting functional residues and enhance
structural data to describe the topological properties of amino
acid coevolution networks within a protein and their interactions.
Chapter 10 attempts to validate MLVA to see if it could predict
MRSA clones that were previously characterized by PFGE, MLST, and
staphylococcal cassette chromosome mec (SCCmec) typing and to
establish possible criteria of clustering MLVA patterns, looking
for high concordance levels.
Chapter 11 introduces a web server which allows the user to
perform genome rearrangement analysis using reversals,
block-interchanges (also called generalized transpositions) and
translocations (including fusions and fissions).
Chapter 12 discussed an algorithm which is used to optimally align
simple sequence repeat (microsatellite) regions as they evolve
uniquely through a process called polymerase slippage.
Chapter 13 possesses a background of the RUN domain research with
an emphasis on the interaction between RUN domain protein including
RUFY proteins and small GTPases with respect to the cell polarity
and membrane trafficking.
In Chapter 14, the authors detail recent advances in understanding
mechanisms of gene regulation in Drosophila.
Chapter 15 provides guidelines for human molecular geneticists to
perform genetic screenings using next generation sequencing.
Chapter 16 describes the process that was used to locate and
characterize small group I introns in the rRNA gene locus of fungi.
Chapter 17 summarizes recent insights in the biology of variant
gene transcription in human and murine malaria species and
addresses the molecular mechanisms at work which regulate the
expression of important virulence factors.
This book has resulted a very appreciated help for university
students to successfully pass multiple choice question based
biochemistry exams, which are the most common way of being assessed
in subjects as General Biochemistry, Medical Biochemistry and other
biosciences courses given at many universities throughout the
world. For the student facing such exams, the fact of 'having
understood and memorized' all the contents is not enough. It is
crucial to practice repeatedly the exercise of searching in the
memory for the proper answer, distinguishing it from very similar
options, specifically designed for inducing to error. Facing to
these situations again and again before the exam will reinforce
your memory ability and will surely improve your grade. The 1000
questions are put into 19 content blocks. Within these blocks, to
simulate the exam conditions, I have not made any additional order
(apart from sugar or lipid metabolism, and photosynthesis). Each
block must be addressed after a thorough study of the contents
found in the indicated reference books or the ones given by your
teachers. I have prepared the questions in the same way that I
prepare the exams for my students. They are the fruit of a
methodical and exhaustive review of the indicated bibliography, and
they cover from the most obvious aspects to the trickiest ones,
with the pursuit of 'leaving nothing without being asked'. Surely
the teachers will also find good ideas on 'what and how to ask' for
these blank evenings preparing the proof. Some technical issues: i)
I have chosen a 5-options model (very common in many universities).
You must know that this option entails that a mistake subtracts
0.25 right answers. ii) when a right answer is included in a more
general answer, that is also right, the valid option is the last
one. About me. I got my PhD in Biology at the University of
Barcelona (Spain). I am specialized in macromolecular structure,
molecular simulation, bioinformatics, computational biochemistry,
drug design, ... I combine (when it is possible ) the teaching at a
secondary school with university teaching. I have been assistant
professor of Biochemistry at the University of Barcelona and the
University of Castilla-La Mancha. You can send me at
[email protected] any doubt arisen from the work with the
book, that I will be very glad to answer. I hope it improves your
grade and your learning."
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