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MHSc Medical Genomics
เข้าร่วมเมื่อ 20 พ.ย. 2021
Genetic Variant Interpretation: A Clinician's Guide
This webinar is a guide for clinicians on how to understand the interpretation and classification of germline variants. It also examines a sample patient genetic testing report, and provides a brief overview of somatic and pharmacogenomic variant interpretation. This webinar provides value to clinicians who are seeking to improve their ability to understand genetic terminology and genetic data.
Chapters:
00:00:00 Introduction
00:02:16 Types of Variants
00:04:51 Interpretation and Classification of Variants
00:09:24 Sample Variant Report
00:12:56 Check your Understanding
00:13:41 Other Forms of Variant Interpretation
00:19:21 Conclusion
License: CC BY-NC-SA 4.0
Sources:
Richards et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. PMID: 25741868.
Chung et. al. Confirmation of the OVOL2 Promoter Mutation c.-307TtoC in Posterior Polymorphous Corneal Dystrophy 1. PLoS One. 2017 Jan 3;12(1):e0169215. doi: 10.1371/journal.pone.0169215. PMID: 28046031.
Images created with Biorender.com
Chapters:
00:00:00 Introduction
00:02:16 Types of Variants
00:04:51 Interpretation and Classification of Variants
00:09:24 Sample Variant Report
00:12:56 Check your Understanding
00:13:41 Other Forms of Variant Interpretation
00:19:21 Conclusion
License: CC BY-NC-SA 4.0
Sources:
Richards et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. PMID: 25741868.
Chung et. al. Confirmation of the OVOL2 Promoter Mutation c.-307TtoC in Posterior Polymorphous Corneal Dystrophy 1. PLoS One. 2017 Jan 3;12(1):e0169215. doi: 10.1371/journal.pone.0169215. PMID: 28046031.
Images created with Biorender.com
มุมมอง: 71
วีดีโอ
Liquid Biopsies: The Future of Cancer Detection and Monitoring
มุมมอง 7214 วันที่ผ่านมา
Liquid Biopsies: The Future of Cancer Detection and Monitoring In this video webinar, created as a submission for the Medical Genomics MHSc program at the University of Toronto, we explore the revolutionary world of liquid biopsies-a simple blood test that could transform how we detect, monitor, and treat cancer. From early detection to tracking treatment progress and preventing relapses, liqui...
Intro to Multiomics
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Welcome to Intro to Multi-omics! Explore how genomics, transcriptomics, proteomics, and metabolomics come together to transform our understanding of diseases like cancer. Follow Alex’s journey as multi-omics profiling uncovers new treatment options for her Triple Negative Breast Cancer, showcasing the power of multi-omics in personalized medicine. This video is licensed under the Creative Commo...
Decoded: Unlocking the Genetics Behind Life’s Clock
มุมมอง 19414 วันที่ผ่านมา
Welcome to this week's episode of Decoded! Join us as we delve into the fascinating genetics behind aging and explore groundbreaking research that could help us turn back the clock. The episode is geared towards first-year undergraduate students to help them learn about research in the field of aging. 🧬✨ In this episode, we cover: * The biological process of aging and its impact on our bodies. ...
Milestones in genomics and how sequencing technologies are changing
มุมมอง 11114 วันที่ผ่านมา
Have you ever wondered how scientists uncover so much about us by analyzing our genetic makeup? How do they transform a simple blood or saliva sample into a wealth of information about who we are? In this webinar, we’ll dive into the fascinating timeline of sequencing technologies, tracing their evolution from Frederick Sanger’s groundbreaking work in 1977 to the cutting-edge advancements of 20...
What is MLPA?
มุมมอง 10314 วันที่ผ่านมา
What exactly is MLPA and how does it work? And why might we choose MLPA over other existing technologies, like a microarray? Watch this video to break down the topic and see the uses of MLPA in both the clinic and research. Throughout the video, you will get an overview of MLPA and its specific applications followed by interactive quizzes to solidify your understanding. This work by Jade Zhang ...
A Parent's Guide to Williams Syndrome
มุมมอง 12814 วันที่ผ่านมา
This webinar acts as a beginner’s guide to William’s Syndrome - a rare genetic condition with multiple unique characteristics. The video takes parents along a journey, which starts with learning about the basics of genetics before diving into the details of caring for a child with Williams Syndrome. Parents will learn about the genetic cause of Williams Syndrome, the diagnosis process, and some...
Modifier Genes Explained: Penetrance, Expressivity, Dominance Modification and Pleiotropy
มุมมอง 24614 วันที่ผ่านมา
This webinar is designed for the first-year students of the MHSc Medical Genomics program and anyone with a background in genetics. The goal of this video is to provide clear definitions and examples of key genetic concepts of modifier effects for new or incoming graduate students. The video offers an overview of genetic modification, exploring how modifier genes influence genetic traits and wh...
Master the Art of Data Visualization with ggplot2 in R
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Are you an undergraduate or graduate student looking to elevate your data visualization skills for your assignments, projects, or research? This tutorial is designed just for you! In this webinar, we’ll dive into ggplot2, the powerful R package that transforms boring data into professional, publication-ready graphs. Whether you're a beginner or an experienced R user, you'll learn practical tips...
Single-Cell Sequencing Workflow
มุมมอง 8214 วันที่ผ่านมา
Exploring Single Cell Sequencing Join us in this comprehensive webinar on Single-Cell Sequencing Workflow, one of the most advanced technologies that is revolutionizing genomics and precision medicine! Designed for future life science students, this webinar talks about the fascinating world of single-cell sequencing technology, offering insights into its workflow, applications, and future direc...
MedGen Info Session Fall 2024
มุมมอง 80หลายเดือนก่อน
Program description recorded during and online info session for the MHSc in Medical Genomics. Speaker: Dr. Erin Styles, Director of the MHSc in Medical Genomics Not included in this recording is a panel with current students, and Q&A sessions with attendees.
RNA Sequencing: A New Genomic Tool Entering the Clinic
มุมมอง 965ปีที่แล้ว
This video provides an overview of a genetic test called RNA sequencing (RNA-seq). It will cover an introduction to RNA sequencing, how it differs from DNA sequencing, the steps of RNA sequencing analysis, the clinical applications of RNA sequencing, and the challenges of implementing RNA sequencing in the clinic. The video was developed to help you understand how this comprehensive genetic tes...
Decoding PARP inhibitors: A new hope in treating hereditary cancer
มุมมอง 367ปีที่แล้ว
Decoding PARP inhibitors: A new hope in cancer This webinar is designed to inform on the fundamental aspects of BRCA-associated hereditary cancer and the use of poly ADP ribose polymerase (PARP) inhibitors in treatment. The video introduces hereditary breast and ovarian cancer (HBOC) syndrome and follows it with a discussion on general patient guidelines when using the PARP inhibitory drug Olap...
Genetic Genealogy
มุมมอง 609ปีที่แล้ว
This webinar explores the world of genetic genealogy-understanding its principles, the methods used to infer genetic relationships, and most intriguingly, how genealogy is used in forensics to help solve crimes. With interactivity throughout the webinar, this video provides both educational information and entertainment. References: 1. Greytak, E. M., Moore, C., & Armentrout, S. L. (2019). Gene...
Guardians of the Genome: The Cell Cycle Checkpoints
มุมมอง 281ปีที่แล้ว
Welcome to our webinar on the Guardians of the Genome! We hope to help everyone including high school and undergraduate students to learn more about the functions of the cell cycle checkpoints and possible dysfunctions that can occur. This video was a collaborative effort between Kajeetha Sarvananthan, Solomiya Hnatovska and Pooja Kiran Ravi, who are students in the Medical Genomics Program at ...
2023 Medical Genomics Info Session November
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2023 Medical Genomics Info Session April
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Progeria: The Genetics of Accelerated Aging
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Robertsonian Translocations - Educational Webinar
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Gut Microbiome Identification Using 16S rRNA
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Everything you need to know about PKU - Guide for Metabolic Parents Learning
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Guiding Physicians Through Direct-to-Consumer Genetic Tests (DGT)
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So You’ve Just Been Diagnosed with Lupus
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Non-invasive Prenatal Testing 101 - A beginner's guide to understanding your baby's health
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Whole Genome Sequencing: What Can You Expect?
มุมมอง 13K2 ปีที่แล้ว
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2022 Medical Genomics Info Session April
มุมมอง 4502 ปีที่แล้ว
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transcript summary form explanation video
มุมมอง 5452 ปีที่แล้ว
transcript summary form explanation video
Here's the Cool Part S01E01: Human Microbiome
มุมมอง 5593 ปีที่แล้ว
Here's the Cool Part S01E01: Human Microbiome
Love your demonstration and exaplaination of code its very help full for beginner. If possible kindly perform PCA analysis with biological datasets..Thank you.
This video is gold ✨. Thank you 👏🏽👏🏽
It was really interesting information🙏🏻😍
Interesting ❤ Keep going 😎
👏😘👏great
Great information
MashAllah 🥰
Interesting! Keep up the good work!
Great 👌🏻👌🏻
👏🏻👏🏻👏🏻
Really great! 👍
Very insightful! Keep it on please!
This is great
Wow, that was so interesting; I hope it gets more accessible!
Excellent, good luck.
From the sample of 13 / 14, it looked like the chance of having a healthy baby was two out of three. Then, at the very end, it seems to say only 10% chance of having a healthy baby?
www.google.com/logos/2010/pacman10-i.html
Well to be quite honest I play Pac-Man occasionally but not as often as I used to video games nowadays require too much logic to be honest
What is there in chromosome 16 in last query circos plot? loss or gain?
Perhaps related to this: A brain that's preserved, e.g. by plastination (which doesn’t necessarily cost anything), can live indefinitely in theory (and can also be used in medical research/teaching).
Can you please help how to balance our grey matter and white matter in our brain to be in equilibrium and also in the spinalcord which is constantly changing. And enlighten which one is positive and negative that is about the grey matter and white matter. Through proper breathing excercise and yoga .like the PH values. To my knowledge and experience to much white matter in the brain leads to all kinds of nerves related problems like cranial nerves and vegus nerve viens damages leading to skin deformities poor muscles flesh tissue damage in small intestine and bone marrow damage poor bone density muscle mass and slowly damaging of all internal organs. Causes may be many .the soil structure changed, due to using chemical fertilizers pesticides herbicides hybrid cultivation seedless plants and trees for food and suppliment right from fruits vegetables grains and cereals both man made polution calamities adulteration in food items and distruction like throwing all kinds of garbage on mother Earth and blastering bombs even now on kids pregnant women feeding mother's and innocent people and on common people of each and every country fighting for the borders by the leaders of each and every countries killing them alive and burrying with poverty huñger starvation Malnutrition children births and deformities and as beggar on the steets putting bombs on the houses and shops and working places instead of doing something progressive development for its citizens for a peaceful cheerful joyful happy and healthy lifestyle and generation with moral ethics values culture and tradition virginity with discipline, instead leading to a situation like our ancestors faced by first world war and second world war blastering bombs leading to a critical stages and epidermis effects before and after the wars life .what will be the mind set of human being of today generation and our ancestors when loosing their limbs eyes and life losses due to diseases like plague cholera small pox big pox and income losses and property losses leading them to poverty huñger starvation Malnutrition births deformities and illiteracy and on the streets begging for food shelter clothing water education and job opportunities added Also because of natural calamities like monsoons rain failures drought famine struck by flood Earth quakes land slide train accident and flight crashes may be man made damage or natural , can we say karma or previous birth sins. Actually each and everyone on the earth are sinners.while walking we are killing many creatures below our feet there are millions of micro organisions and creatures on the universe not visible in our naked eyes. So each and everyone of us are killing daily either for food or for drinking water. So can we say when people are suffering from pain and defective births deformities and diseases is due to their previous birth sins or karma or genetic disorder . Everything is subject to changes Nowadays technology has been developed and advanced so kindly enlighten to find out remedies and solutions always remember prevention is better than cure for the welfare of all living beings on the earth. IF each and everyone start talking about holiness or sins no one will be able to even to drink a glassfull of water or eat one grain of rice. Isn't it. ❤️I am only a layman. Not like you people so MUCH educated or talented. 😉 🙏🏻Only humble request please help to create mass awareness to each and everyone on to the earth to the core.never ever tease mock insult any living beings on the universe suffering from pain and defective births deformities and diseases ❤️Instead help for construction of foundation centre and missions for each and every ailments including for cancer and other life threatening disceases social sigma issues and problems like leprosy patients mentally retardant children transgenders physically handicapped multiple neurofibromatosis type 1 patients and type 11 patients and type 111 and for those souls who neither get jobs opportunities for their livelihood and for their children especially special children and family members With the support of the society and the government instead of teasing insulting mocking and create a situation to led them a life as beggars lying with pain and sufferings on the streets of gutter and sewage drainage sides chasing them from houses schools colleges hotels restaurants Kalyana madapams canteen temples churches mosques spiritual organization and from working places worse than like a corona virus pandemic situation. Hopefully hope everything goes smoothly well if each and everyone on the earth are honest genuine sincere dedicated with intergrity and not selfish and money minded along with moral ethics culture and tradition virginity with self discipline self respect and self esteem and dignity without any discrimination in the name of caste creed race colour and religion and regard other souls as their own parents brothers sisters son's and daughters expect their own life partner with pure heart mind body soul and spirit. Everything is possible if corruption tasmac products ganja beer brandy whisky wine cigarette beedi tobacco products poverty illiteracy huñger starvation Malnutrition children births and deformities mocked by the society and the government is eradicated completely and bannished immediately and permanently from the surface of the universe.kindly pass on to the entire world.
Thank you so much. Free Palestine 🇵🇸
I'm doing a paper on progeria and was wondering if you could share your reference list so I could get some more information? Love the video btw!
Great presentation, and excellent delivery!
I was diagnosed about 6 years ago have been on several different medications and there is so many side affects, it's not worth it all that medication made me feel worse than try he disease
Very helpful info - thank you.
Very helpful and clear❤
I got nf1
Phenomenal lecture
For far the best epigenetics related video I've seen
The sound quality is really disappointing and obscure.
couldn't believe I when I first read about it so I had to youtube it
is Yayra a Ghanaian?
Thank u so much, this is very helpful. Pray for Palestine 🇵🇸
No, thank you
Freedom to all the Palestinians from the Zionists occupiers
I will pray for israel
@@navi3347 Brainwashed to the core I see
@@-ZSOX the opposite actually.
Love the XX XY animations especially!
In a nutshell the DNA replicates itself to prevent the evolution of cancer, disease, deformities & death.
No treatment available yet for DMD....only physiotherapy and protein rich diet can slow down the muscles damage...leading to prolong and better life style....
ELEVIDYS is a prescription gene therapy used to treat ambulatory children aged 4 through 5 years old with Duchenne muscular dystrophy (DMD) who have a confirmed mutation in the dystrophin gene
Yeah, that was pretty cool. Helped having the little quizzes, further embedding the information. Wanted more depth, would like to see subsequent presentations.
Is there anyone who will help me? My ANA is negative, anti ds dna, crp, protein in urine is all normal.creatinine in blood also normal.but i have anemia,platelets and WBC are normal.Hb is 10.66.but i have low grade fever,knee pain(not so much high), i take calcium for 2 months but it is not totally cured.But the pain is little bit lessen.but recently i also feel the pain on my left hand joint.i have no rashes in my body,no sunlight related problem.But when it is winter i can see red spot on my leg,in summer the red spot becomes vanished.Doctor said i have no lupus.but I'm little bit worried about that.My ESR level is 33.😢😢😢
I would recommend looking up the SLICC criteria, there are a lot of online resources you can review. Do the test and be empowered with information to present to your physician. Good luck and blessings, it is tough being told “there is nothing wrong with you” when you know your body and what is not right. Addit: get your ANA tested when you are not feeling great. Same happened to me, I had negative, then 1:160 and a further 1:640. A negative does not mean no autoimmune, it can just be a seronegative arthritis
@@StonewoodsGems i will go to hospital tomorrow. Only Ssb is positive. But no sjogren syndrome symptoms are seen.i Don't know what will happen to me.pray for me😥😥
Genetic geology is INCREDIBLY important in our modern times - I'm fascinated by it!
Interesting topic. Very informative
Thank you
Hugs from Brazil
Cool
Very informative video ❤
Thank you very much .. I was looking genetic side of progeria ❤❤❤❤
Scientists have found the relationship of transgenic wheat (gluten) to people becoming stupid and sick - See the article published by PubMed - Gluten induced neurocognitive impairement (Brain Fog Lupus) www.ncbi.nlm.nih.gov/pmc/articles/PMC9256899/ They have been killing people for decades with transgenic wheat (gluten) and glyphosate. See the articles published for about 15 years by Dr. Stephanie Seneff and her team in the MIT.
I’m a 3rd year Molecular Medicine student and this video really helped me understand WGS 😭🙏🏽
Can genetic sequencing detect chromosomal abnormalities/aberrations?
No, for chromosomal abnormalities the tests used are karyotyping and/or fluorescent in-situ hybridization (FISH)
Depending on the type of chromosomal aberration, you may be able to detect them through WGS. Long read sequencing may perform better when detecting certain abnormalities, such as balanced translocations.
@@sornnujahkathir3117 okay let’s say a trisomy or a monosomy ?
Amazing
You need to talk about companies that provide this service. As of to date Bngo is the leader in OGM.