Luis F. Paulin

2 months ago | digitalcommons.library.tmc.edu | Luis F. Paulin |Muthuswamy Raveendran |R Harris |Jeffrey Rogers

BACKGROUND: Recent population studies are ever growing in number of samples to investigate the diversity of a population or species. These studies reveal new polymorphism that lead to important insights into the mechanisms of evolution, but are also important for the interpretation of these variations.

2 months ago | digitalcommons.library.tmc.edu | Moritz Smolka |Luis F. Paulin |Christopher M Grochowski |Dominic Horner

KeywordsHumans, Mosaicism, High-Throughput Nucleotide Sequencing, Genomic Structural Variation, Software, Sequence Analysis, DNA, Genome informatics, Genetics, Cancer, SoftwareAbstractCalling structural variations (SVs) is technically challenging, but using long reads remains the most accurate way to identify complex genomic alterations.

2 months ago | digitalcommons.library.tmc.edu | Sairam Behera |Jonathan Belyeu |Xiao Chen |Luis F. Paulin

KeywordsHumans, Cardiovascular Diseases, Alleles, Lipoprotein(a), DNA Copy Number Variations, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, LPA, Copy number variation, Cardiovascular disease, Next Generation Sequencing, IlluminaAbstractThe 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-region.

Aug 23, 2023 | nature.com | Arang Rhie |Savannah Hoyt |Dylan Taylor |Nicolas Altemose |Paul W. Hook |Sergey Koren | +37 more

AbstractThe human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1,2,3. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5.