Board Roundup: ASHG Board Reviews Committee Action Plans, Finances
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ASHG News
A Physician/Father’s Perspective on the Potential of Genetic Research
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2024 ACGT Hill Day Reflections
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Inside AJHG: A Chat with Alistair Pagnamenta
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? AP: I‘ve had an interest in structural variants (SVs) ever since working on microdeletions identified in array data from the Autism Genomes Project. Now that large clinical genome sequencing datasets are available via the 100k Genomes Project,... Read More
Inside HGG Advances: A Chat with Rachel Oh
Posted By: HGG Advances HGGA: What motivated you to start working on this project? RO: Accurate variant interpretation is essential to both genome diagnostics and screening in medical genetics. Canonical splice site variants (CSSVs) are considered “null variants” (in the same category as nonsense, frameshift, initiation codon, single or multi-exon deletion variants) in a gene... Read More