Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort
Hyunjung Gu, Aniko Sabo, Sharayu V. Jangam…·Katherine Y. King
Author
Baylor College of MedicineORCID 0000-0002-5093-6005Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
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Hyunjung Gu, Aniko Sabo, Sharayu V. Jangam…·Katherine Y. King
Ren-Yi Wang, Khanh Ngoc Dinh, Keito Taketomi…·Marek Kimmel
BESTish infers mutation fitness, mutation rate, and environmental strength in clonal hematopoiesis using a diffusion-approximation framework applied to VAF datasets.
Matthew J. Seasock, Md Shafiquzzaman, Maria Elisa Ruiz Echartea…·Antony Rodriguez
This study identifies let-7 as a regulator of AT2 cell differentiation and fibrosis prevention by controlling oncogenic networks and epigenetic changes.
Chiraag Deepak Kapadia, Nicholas Williams, Kevin J. Dawson…·Jyoti Nangalia
This study examines clonal dynamics and somatic evolution in mouse haematopoiesis, finding that stem cells accrue mutations at a rate similar to human progenitors and exhibit distinct age-related patterns.