Article
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.
Genome research - 20 Nov 2024
Gustafson Jonas A, Gibson Sophia B, Damaraju Nikhita, Zalusky Miranda P G, Hoekzema Kendra, Twesigomwe David, Yang Lei, Snead Anthony A, Richmond Phillip A, De Coster Wouter, Olson Nathan D, Guarracino Andrea, Li Qiuhui, Miller Angela L, Goffena Joy, Anderson Zachary B, Storz Sophie H R, Ward Sydney A, Sinha Maisha, Gonzaga-Jauregui Claudia, Clarke Wayne E, Basile Anna O, Corvelo André, Reeves Catherine, Helland Adrienne, Musunuri Rajeeva Lochan, Revsine Mahler, Patterson Karynne E, Paschal Cate R, Zakarian Christina, Goodwin Sara, Jensen Tanner D, Robb Esther, McCombie William Richard, Sedlazeck Fritz J, Zook Justin M, Montgomery Stephen B, Garrison Erik, Kolmogorov Mikhail, Schatz Michael C, McLaughlin Richard N, Dashnow Harriet, Zody Michael C, Loose Matt, Jain Miten, Eichler Evan E, Miller Danny E
Abstract excerpt
Fewer than half of individuals with a suspected Mendelian or monogenic condition receive a precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in data quality and costs have heightened interest in using long-read sequencing (LRS) to streamline clinical genomic testing, but the absence of control data sets for variant filtering and prioritization has made tertiary analysis of LRS...
Topics
- Humans
- Nanopore Sequencing
- Genome, Human
- Genetic Variation
- Human Genome Project