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Workstreams
Podcast episodes
- “Deep Thought” with Drs Debora Marks and Joe Marsh
- “Live from the Mutational Scanning Symposium”
- Episode 1 “Variant Effect What” with Drs Stan Fields, Doug Fowler and Greg Costain
- Episode 2 “Melanoma and Variant Effects: Beyond Sunscreen” with Drs Dave Adams and Jiyeon Choi
- Episode 3 “Your genes on drugs: context matter” with Drs Frederick ‘Fritz’ Roth, Iris Cohn & Michelle Axford
Events
Seminars
- A comprehensive map of human glucokinase variant activity
- Accurate proteome-wide missense variant effect prediction with AlphaMissense.
- An alignment-based DNA language model for genome-wide variant effect prediction
- Base editing screens map mutations affecting IFNg signalling in cancer
- Beyond GWAS: Massively parallel genome engineering to pinpoint causal variants and target genes
- Blood cell traits’ GWAS loci colocalization with variation in PU.1 genomic occupancy prioritizes causal noncoding regulatory variants
- Bridge RNAs direct programmable recombination of target and donor DNA
- Bridge RNAs direct programmable recombination of target and donor DNA
- Bridging the gap between pharmacogenomics and transporter biophysics using mutational scanning
- Charting the activity landscape of DNMT3A through base editor scanning
- Chromatin context-dependent regulation and epigenetic manipulation of prime editing
- Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
News
- 5th Annual Mutational Scanning Symposium Set for June in Toronto
- Accidental Entrepreneur
- All About EVE
- AVE Alliance Annual Report Chronicles Endeavors to ‘Profoundly Impact Human Health’
- Building an atlas of gene variants to understand health and disease
- Collection of Alex Cagan Illustrations from the Symposium
- Exploring variant effects to advance precision medicine
- Folate Deficiency Demystified – Why Some People May be at Greater Risk of Disease
- Following Up on MSS 2023: Perspectives from Two Participants
- GA4GH OmicsXchange Podcast
- Gene editing innovation to improve genome variant exploration
- Interview with Julia Foreman (DECIPHER) -There is so much potential in the reclassification of variants’
People
- Adelaide Tovar
- Alan Rubin
- Alex Hopkins
- Alex Nguyễn Ba
- Andrew Glazer
- Anna L Gloyn
- Benedetta Bolognesi
- Clare Turnbull
- David Adams
- Doug Fowler
- Frederick (Fritz) Roth
- Irene Gallego Romero
- Jingyou Rao
- Jonathan Mill
- Joseph Marsh
- JT Neal
- Julia Foreman
- Lara Muffley
- Lea Starita
- Mariano Martín
- Matteo Cagiada
- Matthew Hurles
- Ohanna Bezerra
- Priyanka Bajaj
- Vikas Pejaver
- Ziyi Dai
Seminar speakers
- Adrine de Souza
- Alexandra Bendel
- André Faure
- Anna Axakova
- Annique Claringbould
- Antje Rottner
- Antonio Mollica
- Arjun Aditham
- Ayesha Muhammad
- Ben Li
- Ben Livesey
- Carlos Marti-Gomez
- Clare Bycroft
- Craig Markin
- Dan Weiner and Ajay Nadig
- Daniel Schraivogel
- Ferdy Van Geest
- Ferran Muiños
- Florence Chardon
- Florian Wünneman
- Franco Izzo
- Frederik Filip Vinggaard Stæger
- Gabriella Estevam
- Gonzalo Benegas
- Gonzalo Parra
- Guillaume Butler-Laporte
- Haider Inam
- Haley Randolph
- Ian Hoskins
- Jeffrey Calhoun
- Jingyou Rao
- John Morris
- Jon Acosta
- Jonas Koeppel
- Jonathan Frazer
- Joyce Kang
- Juannan Zhou
- Julien Dilly
- King Hung
- Mafalda Dias
- Malvika Tejura
- Marty Yang
- Matt Coelho
- Matthew Durrant
- Matthew Howard
- Max Staller
- Megan Buckley
- Mireia Seuma
- Moez Dawood
- Mustafa Tekpinar
- Nadav Brandes
- Nicholas Lue
- Nicholas Perry
- Nurdan Kuru
- Oana Ursu
- Ohanna Bezerra
- Phillip Huss
- Priyanka Bajaj
- Raehoon Jeong
- Raquel Cuella Martin
- Roshni Patel
- Samuele Cancelieri
- Saori Sakaue
- Sarah Gersing
- Shawn Fayer
- Sofia Battaglia
- Sriram Pendyala
- Steven Erwood
- Timothy Tan
- Toni Beltran
- Tyler Starr
- Ujjwal Rathore
- Vahid Aslanzadeh
- Warren van Loggerenberg
- William Bakhache
- Willow Coyote-Maestas
- Xiaoyan ‘Isaac’ Jia 贾小彦
- Xiaoyi Li
- Yiyun Rao
- Zachary Walsh