long fragment read technology
Emirati Genome Program Yields New Public Health Initiatives, Including Premarital Carrier Screening
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The United Arab Emirates is employing three short- and long-read sequencing platforms to enable these initiatives, which also include PGx testing and HLA typing.
Long-Read Sequencing Data Analysis Reveals Advanced Cancer Features
Researchers delved into data for 189 tumors sequenced in the "Long-Read Personalized OncoGenomics" project to ID complex structural variants and methylation marks, among other tumor insights.
Focal Epilepsy Study Uncovers Distinct Mechanism for Brain Mosaicism
Researchers found that a subset of infant focal epilepsy cases involved brain-specific mosaic mutations due to meiotic errors that were rescued in other tissues.
New Epigenomic Biomarker Could Predict CAR T-Cell Therapy Resistance in Advanced Childhood Leukemia
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At AACR, researchers described how pediatric ALL patients who don't respond to anti-CD19 CAR T-cell therapy have cancers with a unique, stem cell-like epigenome.
At ABRF Meeting, T2T Consortium Describes Improvements of Complete Human Genome
The new human genome assembly could lead to better variant calling and inform cell biology studies, a consortium of researchers said at the ABRF annual meeting.