Litcius/Paper detail

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine R. Paschal, Tom Walsh, Jenny Thies, James T. Bennett, Ian A. Glass, Katrina M. Dipple, Karynne Patterson, Emily Bonkowski, Zoe Nelson, Audrey Squire, Megan Sikes, Erika Beckman, Robin L. Bennett, Dawn Earl, Winston Lee, Rando Allikmets, Seth J. Perlman, Penny Chow, Anne Hing, Tara Wenger, Margaret P Adam, Angela Sun, Christina Lam, Irene J. Chang, Xue Zou, Stephanie Austin, Erin Huggins, Alexias Safi, Apoorva K. Iyengar, Timothy E. Reddy, William H. Majoros, Andrew S. Allen, Gregory E. Crawford, Priya S. Kishnani, Mary‐Claire King, Tim Cherry, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Evan E. Eichler

2021The American Journal of Human Genetics240 citationsDOIOpen Access PDF

Topics & Concepts

Structural variationMendelian inheritanceGeneticsBiologyComputational biologyCopy-number variationGenetic testingSingle-nucleotide polymorphismGenetic variationGeneGenomeGenotypeGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics