User profiles for Luis F. Paulin
 | Luis PaulinBaylor College of Medicine Verified email at lcg.unam.mx Cited by 329 |
The complete sequence of a human Y chromosome
…, LF Paulin, D Porubsky, T Potapova, F Ryabov… - Nature, 2023 - nature.com
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …
because of its complex repeat structure that includes long palindromes, tandem repeats and …
[HTML][HTML] Detection of mosaic and population-level structural variants with Sniffles2
Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2, …
the most accurate way to identify complex genomic alterations. Here we present Sniffles2, …
Comprehensive structural variant detection: from mosaic to population-level
Long-read Structural Variation (SV) calling remains a challenging but highly accurate way
to identify complex genomic rearrangements. Here, we present Sniffles2, which is faster and …
to identify complex genomic rearrangements. Here, we present Sniffles2, which is faster and …
Improved sequence mapping using a complete reference genome and lift-over
Complete, telomere-to-telomere (T2T) genome assemblies promise improved analyses and
the discovery of new variants, but many essential genomic resources remain associated …
the discovery of new variants, but many essential genomic resources remain associated …
ATM controls meiotic DNA double-strand break formation and recombination and affects synaptonemal complex organization in plants
MT Kurzbauer, MP Janisiw, LF Paulin… - The Plant …, 2021 - academic.oup.com
Meiosis is a specialized cell division that gives rise to genetically distinct gametic cells. Meiosis
relies on the tightly controlled formation of DNA double-strand breaks (DSBs) and their …
relies on the tightly controlled formation of DNA double-strand breaks (DSBs) and their …
[HTML][HTML] FixItFelix: improving genomic analysis by fixing reference errors
The current version of the human reference genome, GRCh38, contains a number of errors
including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors …
including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors …
[HTML][HTML] Poly (ADP-ribose) glycohydrolase coordinates meiotic DNA double-strand break induction and repair independent of its catalytic activity
Poly(ADP-ribosyl)ation is a reversible post-translational modification synthetized by ADP-ribose
transferases and removed by poly(ADP-ribose) glycohydrolase (PARG), which plays …
transferases and removed by poly(ADP-ribose) glycohydrolase (PARG), which plays …
[HTML][HTML] Identification of allele-specific KIV-2 repeats and impact on Lp (a) measurements for cardiovascular disease risk
The abundance of Lp (a) protein holds significant implications for the risk of cardiovascular
disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-…
disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-…
The benefit of a complete reference genome for cancer structural variant analysis
The complexities of cancer genomes are becoming more easily interpreted due to advancements
in sequencing technologies and improved bioinformatic analysis. Structural variants (…
in sequencing technologies and improved bioinformatic analysis. Structural variants (…
PhyloFlu, a DNA microarray for determining the phylogenetic origin of influenza A virus gene segments and the genomic fingerprint of viral strains
LF Paulin, MD Soto-Del Río, I Sánchez… - Journal of Clinical …, 2014 - Am Soc Microbiol
Recent evidence suggests that most influenza A virus gene segments can contribute to the
pathogenicity of the virus. In this regard, the hemagglutinin (HA) subtype of the circulating …
pathogenicity of the virus. In this regard, the hemagglutinin (HA) subtype of the circulating …