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Biorxiv : the Preprint Server for Biology|October 9, 2023
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.Nature Genetics|January 29, 2025
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.Biorxiv : the Preprint Server for Biology|April 3, 2026
A Complete Genome for the Common MarmosetPrajna Hebbar, Tamara Potapova, Hailey Loucks, et al.Nature|May 6, 2021
A high-quality bonobo genome refines the analysis of hominid evolutionYafei Mao, Claudia R Catacchio, LaDeana W Hillier, et al.Biorxiv : the Preprint Server for Biology|November 24, 2025
A telomere-to-telomere map of somatic mutation burden and functional impact in cancerMin-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, et al.Cell|February 24, 2018
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome AssemblyTatsiana Aneichyk, William T Hendriks, Rachita Yadav, et al.Science (New York, N.Y.)|June 9, 2018
High-resolution comparative analysis of great ape genomesZev N Kronenberg, Ian T Fiddes, David Gordon, et al.American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.Biorxiv : the Preprint Server for Biology|August 16, 2024
A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigreeDavid Porubsky, Harriet Dashnow, Thomas A Sasani, et al.Biorxiv : the Preprint Server for Biology|February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsTaralynn M Mack, Jiadong Lin, Luyao Ren, et al.Pageof 23