long fragment read technology
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.
A new study has explored patterns in these molecules in pregnant women, showing potential for detection of fetal monogenic diseases and pregnancy complications.
Speedy Long-Read Genome Assembly Enabled by Minimizer-Space Analysis
The minimizer-space de Bruijn graph approach could assemble a human genome in less than 10 minutes using eight cores and 10 gigabytes of random access memory.