Bernardo Rodríguez Martín
@bernardo-rodriguez.bsky.social
Team Leader & Independent Fellow at the @crg.eu
At the Repetitive DNA Biology (REPBIO) Lab, we leverage the latest technologies to decode nucleotide sequences for investigating how repetitive DNA shapes genome function and contributes to disease.
At the Repetitive DNA Biology (REPBIO) Lab, we leverage the latest technologies to decode nucleotide sequences for investigating how repetitive DNA shapes genome function and contributes to disease.
We identified 10 HERVK, 7 of them not previously reported, and 28 solo-long terminal repeats (LTRs) [7/9]
July 31, 2025 at 7:32 AM
We identified 10 HERVK, 7 of them not previously reported, and 28 solo-long terminal repeats (LTRs) [7/9]
Transduction tracing uncovers locus-specific patterns in source L1 and SVA elements. While most L1s mediate only 3′ transductions, some SVAs show 5′ or 3′ specificity. A striking exception: one highly active L1 uses promoter hijacking to drive 5′ transductions. [6/9]
July 31, 2025 at 7:32 AM
Transduction tracing uncovers locus-specific patterns in source L1 and SVA elements. While most L1s mediate only 3′ transductions, some SVAs show 5′ or 3′ specificity. A striking exception: one highly active L1 uses promoter hijacking to drive 5′ transductions. [6/9]
We observed large sequence diversity among L1 and SVA inserts, with dozens of structural conformations shaped by their integration mechanisms and transductions. SVA elements show a broad size range, largely driven by variability in their internal hexameric and VNTR repeats. [5/9]
July 31, 2025 at 7:32 AM
We observed large sequence diversity among L1 and SVA inserts, with dozens of structural conformations shaped by their integration mechanisms and transductions. SVA elements show a broad size range, largely driven by variability in their internal hexameric and VNTR repeats. [5/9]
Our new study scales up to the population level: we sequenced 1,019 human genomes with ONT, resolving the sequence of 23,212 Alu, 4,851 L1, and 3,239 SVA insertions, a gain of +20% (Alu), +166% (L1), and +179% (SVA) over short-read analysis of the same samples. [4/9]
July 31, 2025 at 7:32 AM
Our new study scales up to the population level: we sequenced 1,019 human genomes with ONT, resolving the sequence of 23,212 Alu, 4,851 L1, and 3,239 SVA insertions, a gain of +20% (Alu), +166% (L1), and +179% (SVA) over short-read analysis of the same samples. [4/9]