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Medrxiv : the Preprint Server for Health Sciences|October 14, 2024
Beyond the Spectrum: Subtype-Specific Molecular Insights into Autism Spectrum Disorder Via Multimodal Data IntegrationJavad Zahiri, Mehdi Mirzaie, Kuaikuai Duan, et al.Biorxiv : the Preprint Server for Biology|June 22, 2026
A Pan-pangenome illuminates complex structural variation and selection in humans, chimpanzees, and bonobosJoana Rocha, Runyang Nicolas Lou, Carolina De Lima Adam, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2018
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypesHui Guo, Michael H Duyzend, Bradley P Coe, et al.Biorxiv : the Preprint Server for Biology|March 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locusWolfram Höps, David Porubsky, DongAhn Yoo, et al.Genome Research|November 30, 2016
Discovery and genotyping of structural variation from long-read haploid genome sequence dataJohn Huddleston, Mark J P Chaisson, Karyn Meltz Steinberg, 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.Nature Genetics|July 27, 2021
Recent ultra-rare inherited variants implicate new autism candidate risk genesAmy B Wilfert, Tychele N Turner, Shwetha C Murali, 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.Pageof 10