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
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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,
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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
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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
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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
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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
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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-
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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
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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
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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
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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
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Understanding Evaluation in Education
Evaluation in education is a comprehensive term that encompasses measurement, testing, and qualitative examination of student behavior. It involves both quantitative and qualitative descriptions, along with value judgments. Differentiating from mere measurement, evaluation provides a deeper analysis
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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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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
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Evaluating Genomic Science: Insight into Genome Canada's Mission and Impact
This conversation with Dr. Samantha Evans, Director of Evaluation at Genome Canada, delves into the importance of program evaluation in genomic science. Genome Canada aims to connect ideas, invest in science and technology, and maximize impacts across sectors. The evaluation process involves collect
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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
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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
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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
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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
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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
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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
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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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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
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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
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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
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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
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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
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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
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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
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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.
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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
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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
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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
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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
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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
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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
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Understanding Mainstreaming in Genomic Testing for Lynch Syndrome
Mainstreaming in healthcare involves shifting genomic testing from Clinical Genetics to various specialties, such as cancer MDTs. This process impacts consent for genetic testing and result communication. NDRS data analyzes the time to diagnosis, while training and resources focus on why mainstreami
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Evaluation of Genetic Abnormalities in a 45-Year-Old Male with Gait Abnormalities
A 45-year-old male with gait abnormalities was referred for evaluation, with an unknown inheritance and deceased parents. His father had a history of ataxia and tremor. Using the GAIN scoring metric, the genomic content was assessed, including the presence of protein-coding genes, established TS gen
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Concept Development and Implementation of Ridge Regression in Genomic Selection
This presentation delves into the concept development and implementation of ridge regression in genomic selection, emphasizing the importance of avoiding overfitting by regulating parameters and distinguishing between fixed and random effects. The pioneers of ridge regression and Bayesian methods ar
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Understanding Genome Browsers and their Significance in Genomic Research
Genome browsers are essential tools for visualizing complex genome information, integrating sequence data with annotations in a user-friendly graphical interface. They enable exploration of chromosomal regions, regulatory elements, and comparative genomics across different organisms. Key examples in
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