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Genome Research|November 3, 2016
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 regionKiana Mohajeri, Stuart Cantsilieris, John Huddleston, et al.Biorxiv : the Preprint Server for Biology|July 3, 2023
The variation and evolution of complete human centromeresGlennis A Logsdon, Allison N Rozanski, Fedor Ryabov, et al.Biorxiv : the Preprint Server for Biology|April 10, 2026
A family portrait of the genomic factors shaping tandem repeat mutagenesisThomas A Sasani, Michael E Goldberg, Akshay K Avvaru, et al.Nature|May 10, 2023
Increased mutation and gene conversion within human segmental duplicationsMitchell R Vollger, Philip C Dishuck, William T Harvey, et al.Annals of Human Genetics|November 12, 2019
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long readsMitchell R Vollger, Glennis A Logsdon, Peter A Audano, et al.Science (New York, N.Y.)|March 31, 2022
Segmental duplications and their variation in a complete human genomeMitchell R Vollger, Xavi Guitart, Philip C Dishuck, et al.Science (New York, N.Y.)|April 2, 2016
Long-read sequence assembly of the gorilla genomeDavid Gordon, John Huddleston, Mark J P Chaisson, et al.Proceedings of the National Academy of Sciences of the United States of America|April 25, 2018
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (<i>CFH</i>) gene familyStuart Cantsilieris, Bradley J Nelson, John Huddleston, et al.American Journal of Human Genetics|November 1, 2019
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism IndividualsGiuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, et al.Biorxiv : the Preprint Server for Biology|July 9, 2025
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionDavid Porubsky, DongAhn Yoo, Philip C Dishuck, et al.Pageof 23