Nicolas Altemose

A telomere-to-telomere map of somatic mutation burden and functional impact in a cancer.

Cancer genomes harbor extensive somatic genetic and epigenetic variation, yet large portions of the genome remain inaccessible to conventional reference-based analyses. Here, we demonstrate that pairing a near-telomere-to-telomere (near-T2T) diploid assembly of a donor with deep short- and long-read sequencing of their...

A practical guide to studying genome function using single-molecule genomics.

Inverted logic of ecDNA localization converts nuclear periphery into oncogenic transcription hubs in cancer

It is shown that ecDNAs, in contrast to chromosomal DNA, preferentially localize to the nuclear periphery yet resist peripheral gene silencing, and single-molecule multi-omic sequencing and imaging-based CRISPR screening demonstrate enhanced ecDNA hub formation, H3K27ac and H3K9me3 bivalency, late DNA replication, long...

A complete diploid human genome benchmark for personalized genomics

A telomere-to-telomere genome benchmark with near-perfect accuracy across 99.4% of the diploid HG002 genome is presented, expanding the reach of genomic medicine to the entire genome and enabling a new era of personalized genomics.