Data QC / cleaning in Genome-Wide Association Studies (GWAS)
Daniel Howrigan, Data group leader at Neale Lab (MGH, Broad Institute), for a workshop on data QC and cleaning in GWAS. Learn about goals of GWAS, genetic data visualization, QC methods, and more.
2 views • 35 slides
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
2 views • 27 slides
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
2 views • 66 slides
Middle East & Africa NGS Market - Opportunity Analysis And Industry Forecast
Middle East & Africa NGS Market by Offering (Kits [Library Prep, QC, DNA Extraction], System) Type (Genome, Exome, Targeted), Application (Reproductive, Oncology, Infectious, Drug Discovery), Technology (SBS, Nanopore, Nanoball, SMRT Seq) \u2013 Forecast to 2031\n
7 views • 4 slides
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
0 views • 13 slides
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
0 views • 35 slides
Bioinformatics for Genomics Lecture Series 2022 Overview
Delve into the Genetics and Genome Evolution (GGE) Bioinformatics for Genomics Lecture Series 2022 presented by Sven Bergmann. Explore topics like RNA-seq, differential expression analysis, clustering, gene expression data analysis, epigenetic data analysis, integrative analysis, CHIP-seq, HiC data,
0 views • 36 slides
Transformative Power of Sequencing in Molecular Biology
The falling costs of sequencing have revolutionized various fields like genetics, genomics, cell biology, microbiology, and evolutionary biology. Sequencing data has enabled us to understand genomes, revolutionize cell biology techniques, conduct comparative genomics, population genomics, and metage
1 views • 31 slides
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
0 views • 14 slides
Genome Assembly
Genome assembly is a technique to assemble short DNA fragments into a organized format.
0 views • 15 slides
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
0 views • 34 slides
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
3 views • 5 slides
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
0 views • 7 slides
Polymorphism and Variant Analysis Lab Exercise Overview
This document outlines a lab exercise on polymorphism and variant analysis, covering tasks such as running Quality Control analysis, Genome Wide Association Test (GWAS), and variant calling. Participants will gain familiarity with PLINK toolkit and explore genotype data of two ethnic groups. Instruc
0 views • 43 slides
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
0 views • 17 slides
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
2 views • 30 slides
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.
0 views • 21 slides
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
0 views • 30 slides
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
0 views • 19 slides
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.
0 views • 41 slides
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
0 views • 18 slides
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
0 views • 37 slides
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
0 views • 15 slides
Gene Wiki Jamboree FaceBase Spring Meeting Summary
The Gene Wiki Jamboree FaceBase Spring Meeting in 2010 aimed to create collaboratively-written and community-reviewed review articles for every gene in the human genome and every concept relevant to FaceBase. It highlighted the value of such articles, providing quick summaries and compilations of re
0 views • 13 slides
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
0 views • 24 slides
Decoding Genetics: Insights from Alzheimer's Disease Symposium to Type 2 Diabetes Study
Explore the latest findings from the Alzheimer's Disease Genetics Symposium 2019 on disease mechanisms, drug targets, and genetic pathways. Dive into the progress made by the Alzheimer's Disease Genetics Consortium over the past decade. Transition to a Genome-Wide Association Study uncovering suscep
0 views • 42 slides
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
0 views • 28 slides
Star-AI for Genetic Data Analysis: Incorporating Knowledge in Statistical Modeling
Knowledge-based approaches are crucial in genetic data analysis to enhance the accuracy and scope of genome-wide association studies (GWAS). Stochastic Relational AI (Star-AI) offers a solution by leveraging probability theory and First Order Logic to capture complex genetic interactions. By integra
0 views • 10 slides
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
0 views • 10 slides
Understanding Y Chromosomal Haplogroups in Genetic Studies
Exploring the utility of non-recombining paternal ancestry information in Genome-Wide Association Studies (GWAS) through the analysis of Y chromosomal haplogroups. This review delves into the implications of using Y chromosome and mitochondrial DNA data in tracing human migrations, ancestry, bottlen
0 views • 27 slides
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
0 views • 24 slides
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
0 views • 38 slides
Understanding Genomics and Bioinformatics in Genetics Evolution
Delve into the world of genomics and bioinformatics through the Genetics and Genome Evolution (GGE) lecture series by Sven Bergmann. Explore topics such as RNA-seq analysis, differential expression, gene expression measurement techniques, and integrative analysis with epigenetic data. Gain insights
0 views • 37 slides
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
0 views • 31 slides
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
0 views • 35 slides
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
0 views • 35 slides
Understanding Phylogenomics and Gene Function Prediction in Evolutionary Biology
Explore the significance of phylogenomics in predicting gene functions and establishing evolutionary relationships using genome-scale data. Learn about the challenges of using single genes or a few genes in phylogenetic analysis, the importance of analyzing multilocus data, and the need for multiple
0 views • 24 slides
Iowa Program-Wide Positive Behavior Support: 3-Year Data Analysis
This report details the Iowa Program-Wide Positive Behavior Support initiative's 3-year data analysis, including cohorts, benchmarks of quality, data measures, and Teaching Pyramid Observation Tool scores. The analysis spans from 2006 to 2010 and includes information on specific cohorts, quality ben
0 views • 21 slides
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
0 views • 9 slides
Understanding GWAS: A Brief Overview of Genetic Association Studies
GWAS, or Genome-Wide Association Studies, are a method used to map genes associated with traits or diseases by analyzing genetic markers throughout the genome. This process involves statistically testing the association between SNPs and traits using regression or chi-squared tests in a hypothesis-fr
0 views • 19 slides