Publications by authors named "Amy S Nesmith"
Chromatin immunoprecipitation followed by next-generation DNA sequencing (ChIP-seq) has been used to identify transcription factor (TF) binding proteins throughout the genome. Unfortunately, this approach traditionally requires commercially available, ChIP-seq grade antibodies that frequently fail to generate acceptable datasets. To obtain data for the many TFs for which there is no appropriate antibody, we recently developed a new method for performing ChIP-seq by epitope tagging endogenous TFs using CRISPR/Cas9 genome editing technology (CETCh-seq).
View Article and Find Full Text PDFBackground: Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios.
Methods: Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected).
Article Synopsis
- Recently discovered read-through fusion transcripts result from splicing two adjacent genes and may be linked to breast cancer.
- Researchers analyzed RNA sequencing data from 168 breast tissue samples to identify these transcripts and found two significant ones (SCNN1A-TNFRSF1A and CTSD-IFITM10) unique to breast cancer, with none present in normal tissues.
- The identified fusion transcripts produce proteins in breast cancer cells, and preliminary experiments suggest that targeting one of these (CTSD-IFITM10) can decrease cancer cell growth, indicating their potential as biomarkers and therapeutic targets.