Stanford Genetics Conference on
Structural Variants and DNA Repeats
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The 2023 Stanford Genetics Conference on Structural Variants and DNA Repeats (SVAR23)
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The 2022 Stanford Genetics Conference on Structural Variants and DNA Repeats (SVAR22)
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The 2022 Stanford Genetics Conference on Structural Variants and DNA Repeats (SVAR22)
Monday April 12th, 2021
Session One
Chair: Charlotte Brannon, Stanford University
- Aaron Gitler, Stanford University, Expanding mechanisms and therapeutic targets for ALS
- Meredith Course, University of Washington, The composition and expansion of large, human-specific tandem repeats
- Ryan Yuen, U of Toronto & SickKids, Tandem repeat expansions in complex disorders: beyond the coding sequence
- Melissa Gymrek, UCSD, Genome-wide characterization of de novo tandem repeat mutations in humans and their contribution to autism spectrum disorders
- Sandrine Da Cruz, VIB-KU Leuven, From the motor neuron to the neuromuscular junction: unraveling neurodegenerative mechanisms in ALS
- Don Cleveland, UCSD, Designer DNA drug therapy for neurodegenerative disease from repeat expansions
Session Two
Chair: Vandhana Krishnan, Stanford University
- Ting Wang, WashU, Transposable elements and epigenome evolution
- Kathleen Burns, Dana Farber, Heritable and acquired mobile element insertions
- Karen Miga, T2T Cons. & UCSC, Telomere-to-Telomere chromosome assemblies: New insights into genome biology and structure
- Charles Lee, Jackson Laboratory, Elucidating complex structural variant regions of the human genome
- Evan Eichler, University of Washington & HHMI, Long-read sequencing and the characterization of complex genetic variation
- Aaron Wenger, PacBio, Accurate long-read sequencing of 80 rare disease cases unsolved by short reads
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The 2020 Stanford Genetics Conference on Structural Variants and DNA Repeats (SVAR20)
Monday May 11th, 2020
Session One
Chair: Gamze Gursoy, Yale University
- Jan Korbel, EMBL, Single-cell analysis of structural variations, complex DNA rearrangements
- Lesley Jones, Cardiff University, Genetic modifiers in Huntington’s disease: an expanding tale
- Clotilde Lagier-Tourenne, Harvard Medical School, Modeling C9ORF72 expansion: a crucial step for therapeutic development in neurodegenerative diseases
- Janet Song, Stanford University, Characterization of a tandem repeat array associated with human evolution and psychiatric disease
- Jonathan Sebat, UCSD, What SVs can tell us about the genetic basis of psychiatric traits
- Aseem Ansari, St. Jude, Synthetic genome regulators (synGRs) to remedy repeat based diseases
- Christopher Pearson, U of Toronto / SickKids, Towards reversing the mutation of a repeat expansion disease
Session Two
Chair: Vandhana Krishnan, Stanford University
- Karen Miga, T2T Consortium & UCSC, New Era of Telomere-to-Telomere (T2T) Genomics: Advancing technologies to study the uncharted regions of the human genome
- Kelly Frazer, UCSD, Properties of structural variants and short tandem repeats associated with gene expression and complex traits
- Ryan Mills, University of Michigan, Identification and characterization of cryptic genomic repetitive elements
- Justin Zook, GIAB Consortium & NIST, Genome in a Bottle Benchmarks for Structural Variants and Repetitive Regions
- Cedric Feschotte, Cornell University, Impact of transposable element insertions on human gene expression variation
- Egor Dolzhenko, Illumina, Locating repeat expansions in short-read sequencing data
- Annalisa Pawlosky, Google, Harnessing the power of DNA structure for protein sequencing