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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.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.Nature|April 24, 2025
Human de novo mutation rates from a four-generation pedigree referenceDavid Porubsky, Harriet Dashnow, Thomas A Sasani, et al.Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.Science Advances|August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disordersXiangbin Jia, Shujie Zhang, Senwei Tan, et al.Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variationJonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.Genome Research|October 2, 2024
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variationJonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, 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 de novo mutation and recombination from a four-generation pedigreeDavid Porubsky, Harriet Dashnow, Thomas A Sasani, et al.Pageof 10