Genomic changes - PowerPoint PPT Presentation


2023 Winter Wheat Breeding & Research Updates

Get the latest updates on winter wheat breeding and research from Dr. Sue Mondal, a winter wheat breeder. Explore topics such as abiotic stress tolerance, genomic technologies, rapid cycling, disease resistance, and more.

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Characterising Risk and Biology of Smouldering Myeloma for Early Detection of Symptomatic Myeloma

Understand the risk and biology of smouldering myeloma (SMM) for early detection of symptomatic myeloma. The study will investigate genomic and immune correlates of progression, clonal heterogeneity, and biomarkers using liquid biopsies and T cell phenotype and functionality in SMM.

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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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Genetic Testing in Chronic Kidney Disease (CKD): Insights and Applications

Genetic testing plays a crucial role in identifying inherited kidney diseases, with around 15% of CKD cases having monogenic causes. Despite a high percentage of patients reporting a family history of CKD, Mendelian causes only account for about 10% of adult ESRD cases. Understanding the genetic bas

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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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Statistical Genomics and Machine Learning Challenges in AI

Explore the intersection of statistical genomics, machine learning, and artificial intelligence through topics like knowledge mining, MMAP algorithm, cloud computing, and historical events such as Garry Kasparov vs IBM Deep Blue. Delve into the concepts of statistical learning methods, data predicti

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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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Genetic Assessment of CNV.J on Chromosome 3q28 - Case Study J

This case study evaluates a copy number variant (CNV) on chromosome 3q28 (190380498_191783134) associated with a loss of genetic material. The assessment includes genomic content analysis, gene involvement categorization, evaluation of established/predicted genes, and detailed scrutiny of the CCDC50

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Gene Prediction: Similarity-Based Approaches in Bioinformatics

Gene prediction in bioinformatics involves predicting gene locations in a genome using different approaches like statistical methods and similarity-based approaches. The similarity-based approach uses known genes as a template to predict unknown genes in newly sequenced DNA fragments. This method in

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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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Understanding Genetic Markers in Molecular Mapping

Genetic markers play a crucial role in gene mapping within molecular biotechnology. They are fragments of DNA associated with specific genomic locations, aiding in identifying DNA sequences and analyzing genetic variation. Various types of genetic markers such as RFLP, SSR, and SNP offer insights in

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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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Understanding Atypical Patterns of Inheritance in Genetics

Explore atypical modes of inheritance such as codominant traits, pseudodominant inheritance, mitochondrial inheritance, anticipation, pleiotropy, variable expressivity, heterogeneity, new mutation, and complex traits in genetics. Learn about codominance, pseudodominance, and atypical presentation of

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Insights into Evolutionary Adaptation and Genetic Variation

The production order highlights the essential role of genomic variation as fuel for natural selection, driving evolutionary adaptation. The Cambrian Explosion timeframe reveals a rapid increase in evolutionary adaptation, showcasing the appearance of diverse animal phyla over a relatively short peri

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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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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

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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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Genetic Findings in a Female Patient with Developmental Disorders

A 3-year-old female patient (Case V) with postnatal growth deficiency, VSD, scoliosis, hand anomalies, hearing loss, and craniofacial dysmorphism was referred for genomic microarray testing. Maternal inheritance of a CNV was identified. Research on PTCHD1 disruptions in males and carrier females hig

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Evolution of Sequence Alignment: From Smith-Waterman to BLAST

Delve into the progression of sequence alignment algorithms, from the foundational Smith-Waterman method with its limitations to the efficient filtering strategy employed by BLAST. Discover the challenges faced and solutions adopted in aligning biological sequences for genomic analysis.

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Comparative Genomics Analysis of Co-Association Networks in Species A and B

Explore Figures 1 through 5 depicting a novel method for identifying co-association networks of orthologs between species A and B. The analysis includes optimizing a cost function through simulated annealing, identifying cross-species modules, and assessing network modularity with respect to GO refe

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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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Understanding Multiple Sequence Alignment Methods and Motivation

Multiple Sequence Alignment (MSA) involves aligning three or more biological sequences to reveal evolutionary relationships and subtle similarities. Various methods like Dynamic, Greedy, Progressive, and Iterative approaches are used to overcome challenges in MSA. The motivation behind MSA includes

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Can Multigene Tests Guide Adjuvant Treatment in Early Breast Cancer?

Breast cancer is heterogeneous, and predicting outcomes using clinical and pathologic features can be challenging. Genomic tests such as Oncotype DX, PAM50, and MammaPrint have been developed to aid in treatment decisions since 2002. Studies like the NSABP B-14 and B-20 trials have shown the benefit

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Genomics Market Projected to Reach $70.52 Billion by 2031, Driven by Advancements in Genomic Technologies

Genomics Market by Technology (Sequencing, Microarray, PCR, Nucleic Acid Extraction), Application (Drug Discovery, Diagnostic, Research), End User (Pharmaceutical, Hospital, Academic), Offering (Instrument, Consumables, Software) - Global Forecast to

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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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Understanding Phage Vectors in Genetic Engineering

Phage vectors, utilized in genetic engineering, are bacteriophages capable of incorporating genes of interest into their genome. They have a higher DNA capacity compared to plasmids, making them ideal for creating genomic libraries. Bacteriophages like Lambda and M13 are commonly used for cloning ve

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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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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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PEIA Open Enrollment Plan Year 2023 - Important Updates

PEIA Open Enrollment for the Plan Year 2023 is scheduled from April 2 to May 15. Changes made during this period will be effective from July 1. Benefit Coordinators must approve any changes by May 20. Members can make changes by visiting the PEIA website, calling the helpline, or filling out forms o

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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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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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