Next-generation sequencing
2 publications found.
Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery
Published: May, 2025
Abstract: Advances in long-read sequencing have enabled routine complete assembly of human genomes, but much remains to be done to represent broader populations and show impact on disease-gene discovery. Here, we report highly accurate, near-complete an...
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Published: May, 2025
Abstract: Advances in long-read sequencing have enabled routine complete assembly of human genomes, but much remains to be done to represent broader populations and show impact on disease-gene discovery. Here, we report highly accurate, near-complete an...
Read more »
Cell-free DNA methylome profiling by MBD-seq with ultra-low input
Published: March, 2021
Abstract: Methylation signatures in cell-free DNA (cfDNA) have shown great sensitivity and specificity in the characterization of tumour status and classification of tumour types, as well as the response to therapy and recurrence. Currently, most cfDNA meth...
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Published: March, 2021
Abstract: Methylation signatures in cell-free DNA (cfDNA) have shown great sensitivity and specificity in the characterization of tumour status and classification of tumour types, as well as the response to therapy and recurrence. Currently, most cfDNA meth...
Read more »