“inside ajhg” Search Results

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

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? YL and QS: Genotype imputation is a standard practice but not all variants can be well imputed. State-of-the-art approaches perform poorly for low frequency variants (LFVs) and rare variants (RVs), either removing well-imputed variants or failing to... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? KC: We were intrigued by the promise of single-cell DNA methylation data for a number of reasons, including the ability to more directly examine allele-specific methylation associated with germline or somatic variants. Single-cell approaches for DNA methylation... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? SG: Tumor Mutational Burden (TMB) is one of a few FDA approved biomarkers for immunotherapy in solid tumors but the mechanisms for why certain tumors are TMB-high and why certain TMB-high tumors still do not respond to... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? DF: I initially trained as a chemist, so I’m surprised to have written this paper about variants of uncertain significance. I moved from chemistry to genomics because it was, and still is, a hotbed of technological development.... Read More