Genomic evaluation - PowerPoint PPT Presentation


Genomic Inference of Human Population Size Changes Over Time

Explore the genomic inference of a severe human bottleneck during the Early to Middle Pleistocene transition, tracing the evolution of hominins over the last 4 million years, and studying essential events in the emergence of humans in the last one million years. Discover well-known human population

4 views • 33 slides


Actions Emanating from the Evaluation of the Governance Reform

The evaluation of the governance reform within the WMO aimed to assess its alignment with strategic objectives, effectiveness in responding to societal needs, coordination efficiency, decision-making process, agility, and more. Evaluation criteria included relevance, design validity, effectiveness,

1 views • 13 slides



Latest Developments in Genomic Medicine and NHS Genomic Strategy

The genomic medicine field is advancing rapidly, with a focus on enhancing healthcare services through genomic testing for prediction, prevention, diagnosis, and precision medicine. The NHS is actively integrating genomics into its healthcare system, aiming for equitable access to genomic testing. I

1 views • 16 slides


Comprehensive School Quality Assurance and Evaluation Process

A detailed insight into the Quality Assurance Department's role in school evaluation and improvement processes, including Whole School Evaluation (WSE), Follow-through initiatives, Teaching and Learning assessments, Resumption and Examination Monitoring. The process involves both internal self-evalu

0 views • 20 slides


Methods of Training Evaluation: Overview and Importance

Training and development are fast-growing fields globally, including in India. Evaluation plays a crucial role in understanding the effectiveness and efficiency of training programs for human resource development. This presentation covers the concept of training, evaluation strategies, methods/model

0 views • 61 slides


Universal Evaluation Framework: Simplifying Evaluation Processes

This session introduces the Universal Evaluation Framework (UEF) developed for evaluating QAA Scotland Enhancement Themes. Participants learn key evaluation questions, evidence capture, and the Theory of Change to enhance evaluation confidence. The QAA Scotland Evaluation Odyssey details historical

2 views • 14 slides


Implementing Blind Evaluation Pilot in HORIZON EUROPE: Key Facts and Process

HORIZON EUROPE is conducting a pilot on Blind Evaluation in the 2023-2024 work program to address biases in the research and innovation evaluation process. The pilot aims to assess the feasibility of blind evaluations in ensuring fairness and mitigating potential biases towards well-known organizati

9 views • 9 slides


Strengthening National Evaluation Capacity in the Era of Sustainable Development Goals

The presentation by Vijayalakshmi Vadivelu at the National Evaluation Capacities Conference 2017 in Istanbul focused on the importance of strengthening national evaluation capacity in alignment with the Sustainable Development Goals (SDGs). The content covers the holistic approach to national evalua

3 views • 18 slides


Precision Oncology Research using Deep Learning Models

Lujia Chen, a Postdoc Associate at the University of Pittsburgh, focuses on developing deep learning models for precision oncology. By utilizing machine learning, especially deep learning models, Chen aims to identify cancer signaling pathways, predict drug sensitivities, and personalize cancer trea

1 views • 5 slides


Lab 2: DNA Extraction Techniques for Arthropods and Wolbachia

In this lab activity, students will learn how to isolate genomic DNA from arthropods and Wolbachia bacteria. The goal is to transition from fieldwork to molecular biology, utilizing DNA as a diagnostic tool. The activity involves extracting total genomic DNA from identified species and includes pre-

0 views • 11 slides


Evaluation Practices in Macedonia: What Works, What Doesn't

The comparison between the effectiveness of evaluation practices and the presence of formal institutions in Macedonia raises questions about the impact of institutional design on outcomes. While some countries with robust evaluation institutions fall short in practice, others lacking such structures

1 views • 7 slides


Genomic Evaluation of a 2-Month-Old Female with Tetralogy of Fallot

This case involves a 2-month-old female with Tetralogy of Fallot, carrying a genetic variation in the 19p13.11 region. The evaluation process includes assessing genes, known dosage sensitivity, gene count, and detailed analysis of the duplication found in the DGV Gold Standard Dataset. The frequency

0 views • 17 slides


Understanding Challenges and Gaps in Genetic and Genomic Testing for Breast Cancer Risk

The report highlights current challenges and identified gaps in genetic and genomic testing for breast cancer risk assessment. The workgroup aims to catalog existing materials, address terminology confusion, and improve public and clinician education. Challenges include complex terminology, uncertai

0 views • 21 slides


Enhancing Evaluation Capabilities in Mongolia for Agenda 2030

The Mongolian Evaluation Network in collaboration with UNDP is working to integrate the 2030 Agenda into national strategies and plans, establish institutional coordination mechanisms, align budgets, and enhance data monitoring systems. Key stakeholders including government agencies, NGOs, and inter

0 views • 9 slides


Understanding Demi-Regularity in Realist Evaluation

Realist Evaluation is a theory-driven approach focusing on understanding the context and mechanisms of action behind policies and interventions. This webinar explores the concept of demi-regularity in realist evaluation, its origins, and its application in analyzing complex evidence. Key aspects cov

0 views • 16 slides


Molecularly-Guided Therapy vs Platinum Chemotherapy in CUP Patients

This trial aims to compare the efficacy and safety of molecularly-guided therapy or cancer immunotherapy based on genomic profiling with platinum-based chemotherapy in patients with cancer of unknown primary site. The study design includes multiple treatment regimens guided by genomic profiles, with

4 views • 9 slides


Genetic Evaluation of 6-Month-Old Male with Tetralogy of Fallot

A 6-month-old male with Tetralogy of Fallot was assessed for a paternally inherited CNV at 15q13.2. The evaluation involved analyzing genes, overlap with established regions, haploinsufficiency predictors, gene number, and disease associations. The CNV contained 2 protein-coding genes without known

0 views • 13 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


Sustainable Evaluation Systems Workshop Summary

Workshop on Sustainable Evaluation Systems by Stephen Porter at the NEC Conference focused on defining evaluation systems, addressing their failures, and emphasizing the importance of quality, use, and networks in achieving sustainability. Participants engaged in activities such as bingo card introd

0 views • 38 slides


Impact and Evaluation Toolkit for Churches and Christian Charities

This toolkit aims to equip churches and Christian charities engaged in small-scale social action projects to think about impact, measure impact, choose data tools, reflect on evaluation data, and use it effectively. It covers principles of evaluation, setting objectives, selecting indicators, storyt

0 views • 34 slides


Overview of Monitoring and Evaluation in the GEF

The Evaluation in the GEF and Training Module focuses on promoting accountability and learning within the Global Environment Facility (GEF) through monitoring and evaluation activities. The GEF Independent Evaluation Office plays a crucial role in assessing results, effectiveness, and performance of

0 views • 25 slides


Precision Oncology and Genomic Changes in Cancer Treatment

Explore the intricate details of cancer treatment through precision oncology, focusing on cell of origin, genomic changes, tumor microenvironment, host factors, and response to various treatments such as chemotherapy, biological therapy, and immune therapy. The natural history and histology-guided c

0 views • 9 slides


Developing an Evaluation Work Plan for Effective Program Assessment

This presentation by Amy D. Andrade from San Jose State University focuses on developing an Evaluation Work Plan to identify responsibilities and timelines. It covers topics such as Evaluation Coaching Support, Webinar Outlines, Logic Model, Inputs-Outputs-Outcomes, Two Approaches to Evaluation, Pro

0 views • 29 slides


Understanding Ridge Regression in Genomic Selection

Explore the concept of ridge regression in genomic selection, involving the development of genomic selection methods, pioneers in implementation, fixed and random effects, and the over-fitting phenomenon. Learn how ridge regression addresses issues of over-fitting by introducing regularization param

0 views • 26 slides


Decoding the Hidden Regulatory Codes Shaping Protein Evolution

The study explores the intricate relationship between genetic and regulatory codes that shape protein evolution. Discusses how duons, genomic footprints, and transcription factors densely populate and constrain protein-coding exons. Highlights how regulatory elements influence codon choice independe

0 views • 21 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


Evaluation Synthesis in Changing Contexts: Enhancing Knowledge for Development Effectiveness

Evaluation synthesis is crucial for promoting learning, reflection, and decision-making in development work. This process involves bringing together diverse knowledge sources to generate strategic insights and facilitate wider use of evaluation findings. The Independent Office of Evaluation of IFAD

0 views • 20 slides


Genomics Facilitator's Toolkit Summary & Sample Requirements

This toolkit provides essential resources for healthcare professionals involved in genomics services, covering topics such as genomic medicine, whole genome sequencing, clinical genetic testing methods, interpretation of DNA variants, and more. It also details the specific sample requirements for di

0 views • 24 slides


Evaluation of Maternally Inherited 3q26.32 Duplication in a 6-Year-Old Male with Autism

Maternal inheritance of a 3q26.32 duplication in a 6-year-old male with autism was assessed using the GAIN scoring metric. The duplication involves the TBL1XR1 gene and was found to fully overlap with a known haploinsufficient gene. The genomic content evaluation indicates the presence of one protei

0 views • 14 slides


Evaluation of FME Zero Emission Neighbourhoods in Smart Cities

The mid-term evaluation process of FME Zero Emission Neighbourhoods in Smart Cities involves self-evaluation, partner evaluation, and panel evaluation. The procedure includes scientific review, evaluation by scholars, and innovation assessment. Key documents like self-reports, progress reports, and

1 views • 20 slides


Overview of Regular Evaluation 2017 Findings in Estonia

In the Regular Evaluation 2017, efforts were made to maximize the benefits of evaluation outcomes for various stakeholders in Estonia such as the state, society, and institutions. The evaluation focused on a range of actions including preparing legislation, finding experts, creating self-report form

0 views • 6 slides


Genomic Selection in Dairy Cattle: Advantages, Disadvantages, and Impact

Genomic selection in dairy cattle focuses on specialized breeds like Holstein, Jersey, Brown Swiss, and Ayrshire. It brings reliable breeding values at a young age, higher success rates in obtaining top bulls, and lower costs for test proofs, leading to a shorter generation interval. While it offers

0 views • 12 slides


Genomic Prediction of Feed Intake in U.S. Holsteins

This study discusses the inclusion of feed intake data from U.S. Holsteins in genomic prediction, focusing on residual feed intake (RFI) as a new trait. The research involves data from research herds and genotypes of cows, with genetic evaluation models and genomic evaluation for predicting feed int

0 views • 17 slides


Genomic Imputation Pipeline Overview

This document outlines a genomic imputation pipeline for multiple GWAS studies using reference panels such as 1000 Genomes Phase I data. It covers steps like data matching, phasing, and imputation using tools like Beagle and Minimac. The expected output includes imputed dosages and quality measures.

0 views • 6 slides


Evaluation of Genomic Deletion in a 4-Month-Old Male with Bilateral Microphthalmia

Clinical assessment was conducted on a 4-month-old male with bilateral microphthalmia due to a genomic deletion in the 13q12.11 region. The deletion encompasses part of a protein-coding gene and has been associated with various birth defects and developmental delays in previous cases. Detailed evalu

0 views • 13 slides


Introduction to BED Files: An Overview of Browser Extensible Data Format

BED (Browser Extensible Data) files are commonly used for annotating genomic sequences by specifying ranges on chromosomes. They consist of required fields like chromosome name, start and end positions, and optional fields for additional information such as name, score, strand, and color representat

0 views • 11 slides


Comprehensive Guide to Training Evaluation Methods

This detailed guide covers the aim of evaluation, evaluation methods, techniques of evaluation, types of evaluation (formative, process, outcome, impact), and the significance of formative and process evaluation in assessing training effectiveness. Learn about the key principles and practices involv

0 views • 45 slides


Genomic Recursions in Genomic BLUP for Animal Breeding

Explore the application of genomic recursions in single-step genomic best linear unbiased predictor (BLUP) for genetic evaluations in animal breeding. Understand the significance of using genomic data to improve genetic selection, increase accuracy, shorten generation intervals, and enhance genetic

0 views • 31 slides


Mainstreaming Genomic Medicine: 100,000 Genomes Project Update

The Mainstreaming Genomic Medicine post provides insights into the background and progress of the 100,000 Genomes Project, including details on genetic vs. genomic testing, the setup of NHS Genomic Medicine Centres, types of cancer included, and samples taken. It covers the project's inception, key

0 views • 19 slides


Genetic Analysis of 17p13.3 Deletion in a 10-Year-Old Female

This genetic case study involves a 10-year-old female with a de novo 17p13.3 deletion, presenting with mild intellectual disability and growth delay. The deletion overlaps with the Miller-Dieker syndrome critical region, impacting genes associated with lissencephaly and cognitive impairment. Through

0 views • 19 slides