The chain-termination method developed by Frederick Sanger and coworkers in 1977. This method used fewer toxic chemicals and lower amounts of radioactivity than the Maxam and Gilbert method. Because of its comparative ease, the Sanger method was soon automated and was the method used in the first generation of DNA sequencers.
Forensics: Human Identity Testing in the Applied Genetics GroupNathan Olson
"Forensics: Human Identity Testing in the Applied Genetics Group" presentation at the Standards for Pathogen Identification via NGS (SPIN) workshop hosted by the National Institute for Standards and Technology October 2014 by Peter Vallone, PhD from NIST.
Real-time quantitative PCR (qPCR) is a preferred platform for high throughput gene expression profiling, where large numbers of samples are characterized for hundreds of expression markers. Technically, the qPCR measurements are performed in the same way as when classical qPCR is used to analyze only a few targets per sample, but the higher throughput introduces additional sources of potential confounding variation that must be controlled for. In this presentation, Dr Kubista describes how high throughput qPCR profiling studies are designed. He covers assay optimization and validation, sample quality testing, and how to merge multi-plate measurements into a common analysis. Dr Kubista also discusses how to cost-effectively measure and compensate for background due to genomic DNA.
DNA microarrays
– DNA molecules printed at high density used to determine
the level of RNA or DNA in a sample.
– Can be thought of a “reverse Northern blots”
The chain-termination method developed by Frederick Sanger and coworkers in 1977. This method used fewer toxic chemicals and lower amounts of radioactivity than the Maxam and Gilbert method. Because of its comparative ease, the Sanger method was soon automated and was the method used in the first generation of DNA sequencers.
Forensics: Human Identity Testing in the Applied Genetics GroupNathan Olson
"Forensics: Human Identity Testing in the Applied Genetics Group" presentation at the Standards for Pathogen Identification via NGS (SPIN) workshop hosted by the National Institute for Standards and Technology October 2014 by Peter Vallone, PhD from NIST.
Real-time quantitative PCR (qPCR) is a preferred platform for high throughput gene expression profiling, where large numbers of samples are characterized for hundreds of expression markers. Technically, the qPCR measurements are performed in the same way as when classical qPCR is used to analyze only a few targets per sample, but the higher throughput introduces additional sources of potential confounding variation that must be controlled for. In this presentation, Dr Kubista describes how high throughput qPCR profiling studies are designed. He covers assay optimization and validation, sample quality testing, and how to merge multi-plate measurements into a common analysis. Dr Kubista also discusses how to cost-effectively measure and compensate for background due to genomic DNA.
DNA microarrays
– DNA molecules printed at high density used to determine
the level of RNA or DNA in a sample.
– Can be thought of a “reverse Northern blots”
Forensics: Human Identity Testing in the Applied Genetics Groupnist-spin
"Forensics: Human Identity Testing in the Applied Genetics Group" presentation at the Standards for Pathogen Identification via NGS (SPIN) workshop hosted by National Institute for Standards and Technology October 2014 by Peter Vallone, PhD from NIST.
Next-generation sequencing and quality control: An Introduction (2016)Sebastian Schmeier
This lecture is part is an introductory bioinformatics workshop. It gives a background to what sequencing is, what the results of a sequencing experiment are, how to assess the quality of a sequencing run, what error sources exist and how to deal with errors. The accompanying websites are available at http://sschmeier.com/bioinf-workshop/
Molecular marker technology in studies on plant genetic diversityChanakya P
A molecular marker is a molecule contained within a sample taken from an organism (biological markers) or other matter. It can be used to reveal certain characteristics about the respective source. DNA, for example, is a molecular marker containing information about genetic disorders, genealogy and the evolutionary history of life. Specific regions of the DNA (genetic markers) are used to diagnose the autosomal recessive genetic disorder cystic fibrosis, taxonomic affinity (phylogenetics) and identity (DNA Barcoding). Further, life forms are known to shed unique chemicals, including DNA, into the environment as evidence of their presence in a particular location.Other biological markers, like proteins, are used in diagnostic tests for complex neurodegenerative disorders, such as Alzheimer's disease. Non-biological molecular markers are also used, for example, in environmental studies.
Forensics: Human Identity Testing in the Applied Genetics Groupnist-spin
"Forensics: Human Identity Testing in the Applied Genetics Group" presentation at the Standards for Pathogen Identification via NGS (SPIN) workshop hosted by National Institute for Standards and Technology October 2014 by Peter Vallone, PhD from NIST.
Next-generation sequencing and quality control: An Introduction (2016)Sebastian Schmeier
This lecture is part is an introductory bioinformatics workshop. It gives a background to what sequencing is, what the results of a sequencing experiment are, how to assess the quality of a sequencing run, what error sources exist and how to deal with errors. The accompanying websites are available at http://sschmeier.com/bioinf-workshop/
Molecular marker technology in studies on plant genetic diversityChanakya P
A molecular marker is a molecule contained within a sample taken from an organism (biological markers) or other matter. It can be used to reveal certain characteristics about the respective source. DNA, for example, is a molecular marker containing information about genetic disorders, genealogy and the evolutionary history of life. Specific regions of the DNA (genetic markers) are used to diagnose the autosomal recessive genetic disorder cystic fibrosis, taxonomic affinity (phylogenetics) and identity (DNA Barcoding). Further, life forms are known to shed unique chemicals, including DNA, into the environment as evidence of their presence in a particular location.Other biological markers, like proteins, are used in diagnostic tests for complex neurodegenerative disorders, such as Alzheimer's disease. Non-biological molecular markers are also used, for example, in environmental studies.
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...Sérgio Sacani
We characterize the earliest galaxy population in the JADES Origins Field (JOF), the deepest
imaging field observed with JWST. We make use of the ancillary Hubble optical images (5 filters
spanning 0.4−0.9µm) and novel JWST images with 14 filters spanning 0.8−5µm, including 7 mediumband filters, and reaching total exposure times of up to 46 hours per filter. We combine all our data
at > 2.3µm to construct an ultradeep image, reaching as deep as ≈ 31.4 AB mag in the stack and
30.3-31.0 AB mag (5σ, r = 0.1” circular aperture) in individual filters. We measure photometric
redshifts and use robust selection criteria to identify a sample of eight galaxy candidates at redshifts
z = 11.5 − 15. These objects show compact half-light radii of R1/2 ∼ 50 − 200pc, stellar masses of
M⋆ ∼ 107−108M⊙, and star-formation rates of SFR ∼ 0.1−1 M⊙ yr−1
. Our search finds no candidates
at 15 < z < 20, placing upper limits at these redshifts. We develop a forward modeling approach to
infer the properties of the evolving luminosity function without binning in redshift or luminosity that
marginalizes over the photometric redshift uncertainty of our candidate galaxies and incorporates the
impact of non-detections. We find a z = 12 luminosity function in good agreement with prior results,
and that the luminosity function normalization and UV luminosity density decline by a factor of ∼ 2.5
from z = 12 to z = 14. We discuss the possible implications of our results in the context of theoretical
models for evolution of the dark matter halo mass function.
Gliese 12 b, a temperate Earth-sized planet at 12 parsecs discovered with TES...Sérgio Sacani
We report on the discovery of Gliese 12 b, the nearest transiting temperate, Earth-sized planet found to date. Gliese 12 is a
bright (V = 12.6 mag, K = 7.8 mag) metal-poor M4V star only 12.162 ± 0.005 pc away from the Solar system with one of the
lowest stellar activity levels known for M-dwarfs. A planet candidate was detected by TESS based on only 3 transits in sectors
42, 43, and 57, with an ambiguity in the orbital period due to observational gaps. We performed follow-up transit observations
with CHEOPS and ground-based photometry with MINERVA-Australis, SPECULOOS, and Purple Mountain Observatory,
as well as further TESS observations in sector 70. We statistically validate Gliese 12 b as a planet with an orbital period of
12.76144 ± 0.00006 d and a radius of 1.0 ± 0.1 R⊕, resulting in an equilibrium temperature of ∼315 K. Gliese 12 b has excellent
future prospects for precise mass measurement, which may inform how planetary internal structure is affected by the stellar
compositional environment. Gliese 12 b also represents one of the best targets to study whether Earth-like planets orbiting cool
stars can retain their atmospheres, a crucial step to advance our understanding of habitability on Earth and across the galaxy.
Cancer cell metabolism: special Reference to Lactate PathwayAADYARAJPANDEY1
Normal Cell Metabolism:
Cellular respiration describes the series of steps that cells use to break down sugar and other chemicals to get the energy we need to function.
Energy is stored in the bonds of glucose and when glucose is broken down, much of that energy is released.
Cell utilize energy in the form of ATP.
The first step of respiration is called glycolysis. In a series of steps, glycolysis breaks glucose into two smaller molecules - a chemical called pyruvate. A small amount of ATP is formed during this process.
Most healthy cells continue the breakdown in a second process, called the Kreb's cycle. The Kreb's cycle allows cells to “burn” the pyruvates made in glycolysis to get more ATP.
The last step in the breakdown of glucose is called oxidative phosphorylation (Ox-Phos).
It takes place in specialized cell structures called mitochondria. This process produces a large amount of ATP. Importantly, cells need oxygen to complete oxidative phosphorylation.
If a cell completes only glycolysis, only 2 molecules of ATP are made per glucose. However, if the cell completes the entire respiration process (glycolysis - Kreb's - oxidative phosphorylation), about 36 molecules of ATP are created, giving it much more energy to use.
IN CANCER CELL:
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
introduction to WARBERG PHENOMENA:
WARBURG EFFECT Usually, cancer cells are highly glycolytic (glucose addiction) and take up more glucose than do normal cells from outside.
Otto Heinrich Warburg (; 8 October 1883 – 1 August 1970) In 1931 was awarded the Nobel Prize in Physiology for his "discovery of the nature and mode of action of the respiratory enzyme.
WARNBURG EFFECT : cancer cells under aerobic (well-oxygenated) conditions to metabolize glucose to lactate (aerobic glycolysis) is known as the Warburg effect. Warburg made the observation that tumor slices consume glucose and secrete lactate at a higher rate than normal tissues.
word2vec, node2vec, graph2vec, X2vec: Towards a Theory of Vector Embeddings o...Subhajit Sahu
Below are the important points I note from the 2020 paper by Martin Grohe:
- 1-WL distinguishes almost all graphs, in a probabilistic sense
- Classical WL is two dimensional Weisfeiler-Leman
- DeepWL is an unlimited version of WL graph that runs in polynomial time.
- Knowledge graphs are essentially graphs with vertex/edge attributes
ABSTRACT:
Vector representations of graphs and relational structures, whether handcrafted feature vectors or learned representations, enable us to apply standard data analysis and machine learning techniques to the structures. A wide range of methods for generating such embeddings have been studied in the machine learning and knowledge representation literature. However, vector embeddings have received relatively little attention from a theoretical point of view.
Starting with a survey of embedding techniques that have been used in practice, in this paper we propose two theoretical approaches that we see as central for understanding the foundations of vector embeddings. We draw connections between the various approaches and suggest directions for future research.
Nutrition is the science that deals with the study of nutrients and their role in maintaining human health and well-being. It encompasses the various processes involved in the intake, absorption, and utilization of essential nutrients, such as carbohydrates, proteins, fats, vitamins, minerals, and water, by the human body.
Slide 1: Title Slide
Extrachromosomal Inheritance
Slide 2: Introduction to Extrachromosomal Inheritance
Definition: Extrachromosomal inheritance refers to the transmission of genetic material that is not found within the nucleus.
Key Components: Involves genes located in mitochondria, chloroplasts, and plasmids.
Slide 3: Mitochondrial Inheritance
Mitochondria: Organelles responsible for energy production.
Mitochondrial DNA (mtDNA): Circular DNA molecule found in mitochondria.
Inheritance Pattern: Maternally inherited, meaning it is passed from mothers to all their offspring.
Diseases: Examples include Leber’s hereditary optic neuropathy (LHON) and mitochondrial myopathy.
Slide 4: Chloroplast Inheritance
Chloroplasts: Organelles responsible for photosynthesis in plants.
Chloroplast DNA (cpDNA): Circular DNA molecule found in chloroplasts.
Inheritance Pattern: Often maternally inherited in most plants, but can vary in some species.
Examples: Variegation in plants, where leaf color patterns are determined by chloroplast DNA.
Slide 5: Plasmid Inheritance
Plasmids: Small, circular DNA molecules found in bacteria and some eukaryotes.
Features: Can carry antibiotic resistance genes and can be transferred between cells through processes like conjugation.
Significance: Important in biotechnology for gene cloning and genetic engineering.
Slide 6: Mechanisms of Extrachromosomal Inheritance
Non-Mendelian Patterns: Do not follow Mendel’s laws of inheritance.
Cytoplasmic Segregation: During cell division, organelles like mitochondria and chloroplasts are randomly distributed to daughter cells.
Heteroplasmy: Presence of more than one type of organellar genome within a cell, leading to variation in expression.
Slide 7: Examples of Extrachromosomal Inheritance
Four O’clock Plant (Mirabilis jalapa): Shows variegated leaves due to different cpDNA in leaf cells.
Petite Mutants in Yeast: Result from mutations in mitochondrial DNA affecting respiration.
Slide 8: Importance of Extrachromosomal Inheritance
Evolution: Provides insight into the evolution of eukaryotic cells.
Medicine: Understanding mitochondrial inheritance helps in diagnosing and treating mitochondrial diseases.
Agriculture: Chloroplast inheritance can be used in plant breeding and genetic modification.
Slide 9: Recent Research and Advances
Gene Editing: Techniques like CRISPR-Cas9 are being used to edit mitochondrial and chloroplast DNA.
Therapies: Development of mitochondrial replacement therapy (MRT) for preventing mitochondrial diseases.
Slide 10: Conclusion
Summary: Extrachromosomal inheritance involves the transmission of genetic material outside the nucleus and plays a crucial role in genetics, medicine, and biotechnology.
Future Directions: Continued research and technological advancements hold promise for new treatments and applications.
Slide 11: Questions and Discussion
Invite Audience: Open the floor for any questions or further discussion on the topic.
Multi-source connectivity as the driver of solar wind variability in the heli...Sérgio Sacani
The ambient solar wind that flls the heliosphere originates from multiple
sources in the solar corona and is highly structured. It is often described
as high-speed, relatively homogeneous, plasma streams from coronal
holes and slow-speed, highly variable, streams whose source regions are
under debate. A key goal of ESA/NASA’s Solar Orbiter mission is to identify
solar wind sources and understand what drives the complexity seen in the
heliosphere. By combining magnetic feld modelling and spectroscopic
techniques with high-resolution observations and measurements, we show
that the solar wind variability detected in situ by Solar Orbiter in March
2022 is driven by spatio-temporal changes in the magnetic connectivity to
multiple sources in the solar atmosphere. The magnetic feld footpoints
connected to the spacecraft moved from the boundaries of a coronal hole
to one active region (12961) and then across to another region (12957). This
is refected in the in situ measurements, which show the transition from fast
to highly Alfvénic then to slow solar wind that is disrupted by the arrival of
a coronal mass ejection. Our results describe solar wind variability at 0.5 au
but are applicable to near-Earth observatories.
Seminar of U.V. Spectroscopy by SAMIR PANDASAMIR PANDA
Spectroscopy is a branch of science dealing the study of interaction of electromagnetic radiation with matter.
Ultraviolet-visible spectroscopy refers to absorption spectroscopy or reflect spectroscopy in the UV-VIS spectral region.
Ultraviolet-visible spectroscopy is an analytical method that can measure the amount of light received by the analyte.
Gliese 12 b: A Temperate Earth-sized Planet at 12 pc Ideal for Atmospheric Tr...Sérgio Sacani
Recent discoveries of Earth-sized planets transiting nearby M dwarfs have made it possible to characterize the
atmospheres of terrestrial planets via follow-up spectroscopic observations. However, the number of such planets
receiving low insolation is still small, limiting our ability to understand the diversity of the atmospheric
composition and climates of temperate terrestrial planets. We report the discovery of an Earth-sized planet
transiting the nearby (12 pc) inactive M3.0 dwarf Gliese 12 (TOI-6251) with an orbital period (Porb) of 12.76 days.
The planet, Gliese 12 b, was initially identified as a candidate with an ambiguous Porb from TESS data. We
confirmed the transit signal and Porb using ground-based photometry with MuSCAT2 and MuSCAT3, and
validated the planetary nature of the signal using high-resolution images from Gemini/NIRI and Keck/NIRC2 as
well as radial velocity (RV) measurements from the InfraRed Doppler instrument on the Subaru 8.2 m telescope
and from CARMENES on the CAHA 3.5 m telescope. X-ray observations with XMM-Newton showed the host
star is inactive, with an X-ray-to-bolometric luminosity ratio of log 5.7 L L X bol » - . Joint analysis of the light
curves and RV measurements revealed that Gliese 12 b has a radius of 0.96 ± 0.05 R⊕,a3σ mass upper limit of
3.9 M⊕, and an equilibrium temperature of 315 ± 6 K assuming zero albedo. The transmission spectroscopy metric
(TSM) value of Gliese 12 b is close to the TSM values of the TRAPPIST-1 planets, adding Gliese 12 b to the small
list of potentially terrestrial, temperate planets amenable to atmospheric characterization with JWST.
2. Short Tandem Repeats (STR)
The selection of specific loci
• The loci have a
high discriminating power.
•The loci are stable in evidence
samples.
•There is a consensus panel of
core loci for use in DNA
databases.
3.
4.
5. Scientific Working
Group for DNA
Analysis Methods
(SWGDAM)
Y-STR loci:
•DYS19
•DYS385 A/B
•DYS389I
•DYS389II
•DYS390
•DYS391
•DYS392
•DYS393
•DYS438
•DYS439
•DYS19
6. Factors in deciding the loci included in multiplex PCR:
•Locus size and overlap
•Number of alleles
•Thermal cycling parameters
•Primers
•Dyes
64. Pull-up of peaks in one
color may be due to very
high peaks in another
color.
Pull-up is a spectral
artifact that is caused by
the inability of the
software to compensate
for the spectral overlap
between the different
colors if the peak height is
too high.
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74. This Photo by Unknown Author is licensed under CC BY-SA