Genome annotation - PowerPoint PPT Presentation


Transforming Scientific Data Standardization with Large Language Models (LLMs)

Large Language Models (LLMs) to standardize scientific data, including data format standardization, automatic extraction of metadata, data annotation, data quality assessment, data cleaning, and documentation.

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Gene Therapy and Genome Editing Technology

This article provides insights into the status, regulatory considerations, and delivery methods of gene therapy and genome editing technologies. It discusses approved gene therapies in the US, human genome editing in clinical applications, and the regulatory authority of the FDA over gene therapy. T

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Revolutionizing Marine Mammal Detection using Geospatial Artificial Intelligence

Delve into the groundbreaking development of an operational system utilizing geospatial artificial intelligence to detect marine mammals in very high-resolution satellite imagery. Explore the global interest, monitoring platforms, proof of concept, limitations, future possibilities, and innovative a

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Integrating UDL and Social Annotation Through Hypothesis Workshop

Learn how to incorporate Universal Design for Learning (UDL) principles with social annotation using Hypothesis Workshop. Discover the benefits of social annotation, ways to align it with UDL, practical assignment examples, and engage in interactive sessions. Join the workshop to enhance student eng

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Insights into Genome Assembly and Shotgun Sequencing

Explore the world of genome assembly, shotgun sequencing, and the fundamental concepts behind deriving genomes from large sets of sequencing reads. Learn about the complexity and core algorithms involved in contemporary genome assembly processes. Discover how the shotgun concept has revolutionized g

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Sudden Death and Cardiomyopathy Associated with LMNA in Nova Scotia Duck Tolling Retriever

A study on sudden death and cardiomyopathy in Nova Scotia Duck Tolling Retrievers due to LMNA association. The research includes genetic mapping, genotype verification, and functional predictions on Lamin A/C effects. Echocardiogram findings, pedigree data, genome-wide association study, whole-genom

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Bioinformatics

Bioinformatics involves analyzing biological sequences through sequence alignment to uncover functional, structural, and evolutionary insights. This process helps in tasks like annotation of sequences, modeling protein structures, and analyzing gene expression experiments. Basic steps include compar

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Understanding Genome-Wide Association Studies in Statistical Genetics Workshop

Explore the essentials of Genome-Wide Association Studies (GWAS) and genetic data quality control as presented by Daniel Howrigan in the 2023 workshop. Delve into the goals of GWAS, genetic data characteristics, SNP variations, and genotyping techniques. Gain insights into moving from trait heritabi

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Understanding Transcription and Translation of Virus Genome

The lecture covers the transcription and translation processes of virus genomes, including the Baltimore classification system, transcription control in eukaryotes, and the role of transcription factors in gene expression. It explores how different viruses replicate based on their genome type and me

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Genome Assembly

Genome assembly is a technique to assemble short DNA fragments into a organized format.

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Patient Choice for Whole Genome Sequencing in NHS: Education & Training Slide Deck

Developed by Genomics Education Programme, these slides focus on the patient choice consent model for whole genome sequencing in NHS Genomic Medicine Service. The model aims to ensure informed choices for genomic testing, including participation in the National Genomic Research Library. It covers se

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Understanding a Complex KMT2A Rearrangement in AML with Optical Genome Mapping

A case report explores the use of optical genome mapping (OGM) to unravel a complex KMT2A rearrangement in an AML patient. Traditional cytogenetic analyses identified translocations and rearrangements involving chromosomes 10 and 11, leading to the fusion of genes KMT2A and MLLT10. OGM technique, ut

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Understanding the Cancer Genome Atlas (TCGA) Project

The Cancer Genome Atlas (TCGA) project, initiated in 2005, aims to identify genetic mutations in cancer through genome sequencing. Supervised by the Center for Cancer Genomics, TCGA has expanded over the years, publishing numerous research articles and involving various tumor types. The project has

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Understanding DNA: A Journey from Friedrich Miescher to Genes and Function

DNA, the hereditary basis of life, was first discovered by Friedrich Miescher in 1869. It consists of chromosomes, plasmids, and organellar DNA, collectively known as the genome. Genes, sequences of DNA, encode proteins and RNA, essential for an organism's functions. The genome is divided into chrom

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Exploring the Evolution of Molecular Biology: From DNA Discovery to Genome Complexity

Uncover the fascinating journey of molecular biology, tracing key milestones from the discovery of DNA to the intricate structure of genes and genomes. Dive into historical breakthroughs, such as understanding the role of genes in producing proteins, the double helix structure of DNA, and the comple

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Understanding Chromatin Organization and Chromosome Structure in Molecular Biology

Chromosomes are the carriers of genetic information in cells, containing genes made of DNA. Chromatin, composed of DNA wrapped around histone proteins, plays a crucial role in organizing genetic material. Humans have 23 pairs of chromosomes, and the Human Genome Project aims to map the human genome.

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Introduction to Genome Informatics: Course Logistics and Algorithm Concepts

This content provides information about a Genome Informatics course, including course logistics, homework policies, and contact details. It also introduces fundamental concepts such as algorithms, their key features, and examples like finding the smallest number among inputs. The course emphasizes l

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Genome-Wide Association for Drought Tolerance in Potato Study

PhD student João Vitor Nomura is conducting a Genome-Wide Association study for drought tolerance in potatoes at the University of São Paulo and the University of Wisconsin-Madison. The research focuses on adapting potato varieties to extreme heat waves and improving food security. Different abiot

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Genome Sciences 373: Informatics Quiz, Python Dictionaries, and Conditional Statements Overview

Today's session covers topics such as Python dictionaries with in-class examples, iterating through dictionary entries, counting repeating characters in a string, and understanding if/elif/else statements. The session also includes a discussion on combining tests in Python and comparisons operators.

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Understanding Bacterial Comparative Genomics: A Comprehensive Overview

Delve into the realm of bacterial comparative genomics with insights on terminologies, assembly methods, annotation processes, and two key approaches to microbial genomics. Explore the basics of genomics terminology, assembly-based and variant-based analyses, as well as annotation methods for protei

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Innovative Tools and Approaches in Language Annotation and Visualization at CLARIN 2020

Presentations at CLARIN 2020 Session focused on annotation and visualization tools, including a neural syntax annotator for Dutch and German, exploring and visualizing Wordnet data with GermaNet Rover, named entity recognition for distant reading in ELTeC, and the semi-automatic analysis of spontane

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Integrating CMDI for Metadata Editing and Kinship Data Annotation

Explore the integration of CMDI for metadata editing in resources, including open/closed vocabularies, Arbil interface for vocabulary management, ELAN for resource annotation, and KinOath for kinship data. Discover how CMDI improves data annotation and vocabularies management in linguistic research.

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ELAN as a Tool for Oral History Workshop Summary

ELAN, a tool developed over 15 years at the Max-Planck-Institute for Psycholinguistics, is utilized in various research contexts like language documentation, acquisition studies, gesture studies, and sign language studies. The workshop covers the introduction to ELAN, basic and advanced features, an

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Insights into Gene Regulation through Genomic Data Analysis

Explore the intricate world of gene regulation and genomic data analysis through a comprehensive study presented at a faculty workshop in 2014. Delve into the evolution and classification of biology, the impact of genome sequencing on digitizing biology, and the potential of genetic information vari

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Understanding Genetic Disorders and the Human Genome Project

The Human Genome Project, completed in 2003, aimed to identify all human genes and DNA sequences. Genetic disorders, like autosomal disorders and Huntington's disease, can result from mutations at different levels, affecting single genes, chromosomes, or multiple genes. Albinism and cystic fibrosis

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Evaluation of PacBio Sequencing to Improve Sunflower Genome Assembly

Presentation at the Sunflower Genome Consortium Meeting in San Diego discussed the use of PacBio sequencing to enhance the sunflower genome assembly, with evaluations on PacBio data's effectiveness at locus and genome scales. Results highlighted challenges and successes in improving assembly quality

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GPress: A Framework for Querying Genome Annotation Files in Compressed Form

Genome projects generate large GFF files which require significant storage space. GPress offers a solution by compressing GFF files while allowing quick searches and random access. The framework addresses challenges faced by current GFF utilities, providing a more efficient approach to managing and

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GenPIP: In-Memory Acceleration of Genome Analysis

GenPIP is an innovative system that accelerates genome analysis through tight integration of basecalling and read mapping. By utilizing chunk-based pipelines and early rejection techniques, GenPIP optimizes data processing, reducing wasted computation and data movement. The system outperforms existi

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Importance of Functional Annotation of Animal Genomes in NIH Research

Functional Annotation of Animal Genomes (FAANG) is crucial for associating sequence variation with quantitative phenotypes in domestic animals, serving as important models for human health, disease, and ecology. The NIH actively participates in various genome projects involving cattle, horses, and c

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Insights into NP-Hard Problems in Molecular Biology and Genetics

Understanding the complexity of NP-Hard Problems arising in molecular biology and genetics is crucial. These problems involve genome sequencing, global alignment of multiple genomes, identifying relations through genome comparison, discovering dysregulated pathways in human diseases, and finding spe

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Efficient Ways to Download Genome Files for Bioinformatics Analysis

Obtain valuable insights into retrieving genome files for bioinformatics analysis utilizing multiple methods such as connecting via Finder, using Filezilla for FTP access, and executing curl commands on Xanadu. Learn how to access coding sequences, feature tables, nucleotide sequences, and encoded p

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Cognitive Study of Subjectivity Extraction in Sentiment Annotation

A cognitive study on extracting subjectivity in sentiment annotation, exploring if humans perform subjective extraction similarly to machines for sentiment analysis. The study investigates sentiment oscillations and different methods adopted based on the nature of subjective documents.

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Analyzing Representation of Sex Scenes in Ghanaian Films

Exploring the portrayal of sexual intercourse in Ghanaian films against cultural values, this study introduces a multimodal annotation scheme for analysis. Addressing concerns raised by the public, it delves into the complexities of conveying sex in a culture that tends to discourage open discussion

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Survey of Structural Properties of Different Classes of Viruses

Viruses are small obligate intracellular parasites that require living hosts for multiplication. They lack ribosomes and metabolic enzymes, relying on host cells for replication. Viruses vary in size, shape, and genome organization, with classification based on morphology, physicochemical properties

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Open Source Software Initiative Progress Update

The Open Source Software initiative progress update provides insights into the work accomplished during e-meetings, focusing on the development of a modular annotation tool shared by a focus group. The group's activities, such as drafting requirements, analyzing survey results, and setting up collab

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Dialogue Annotation Scheme for Weight Management Chat

Obesity is a prevalent issue with individuals seeking ways to change their health behaviors. The article explores a dialogue annotation scheme using the Trans-Theoretical Model of Health Behavior Change. It delves into stages like precontemplation, contemplation, preparation, action, and maintenance

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Understanding the Morphology and Genome Organization of NDV

NDV, a pleomorphic virus, has an irregular spherical shape with filamentous features. Its genome consists of a single-stranded RNA with six genes arranged in a specific order. The virus contains a lipoprotein envelope with short spikes and a helical nucleocapsid core to protect the RNA. The genomic

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Understanding Human Genetic Variation and Its Implications

These slides explore the connection between genetic variations and phenotypes, focusing on how the human genome varies between individuals, identifying associations with phenotypes/diseases, and the impact of sequencing technologies on reading the genome. The evolution of projects like HapMap and th

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Weak Supervision for NLP: Overcoming Labelled Data Challenges

Addressing the challenge of acquiring labelled data for NLP models, weak supervision techniques offer solutions through alternative annotation methods and leveraging diverse data sources. This talk highlights the importance of overcoming the scarcity of labelled data in machine learning and NLP task

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NIFA's Role in Catalyzing Transformative Research on Animal Genome to Phenome

NIFA, a leading federal agency in food and agricultural sciences, provides funding for innovative research on animal genomics and breeding. They support projects that address societal challenges and promote advancements in agriculture. The focus is on translating genome information into actionable i

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