J
Jessica X. Chong
Researcher at Seattle Children's
Publications - 4
Citations - 99
Jessica X. Chong is an academic researcher from Seattle Children's. The author has contributed to research in topics: Exome & Copy-number variation. The author has an hindex of 2, co-authored 4 publications receiving 14 citations.
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Journal ArticleDOI
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,Thomas J. Walsh,Jenny Thies,James T. Bennett,Ian A. Glass,Katrina M Dipple,Karynne E. Patterson,Emily S Bonkowski,Zoe Nelson,Audrey Squire,Megan C. Sikes,Erika Beckman,Robin L. Bennett,Dawn L. Earl,Winston Lee,Rando Allikmets,Seth J. Perlman,Penny M Chow,Anne V. Hing,Tara L. Wenger,Margaret P Adam,Angela Sun,Christina Lam,Irene 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 +49 more
TL;DR: Targeted Long-Read Sequencing (T-LRS) as discussed by the authors uses adaptive sampling on the Oxford Nanopore platform to search for pathogenic substitutions, structural variants, and methylation differences using a single data source.
Posted ContentDOI
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha Baxter,Jennifer E. Posey,Nicole J. Lake,Nara Sobreira,Jessica X. Chong,Steven Buyske,Elizabeth E. Blue,Lisa Helbling Chadwick,Zeynep Coban-Akdemir,Zeynep Coban-Akdemir,Kimberly F. Doheny,Colleen P. Davis,Monkol Lek,Monkol Lek,Christopher Wellington,Shalini N. Jhangiani,Mark Gerstein,Richard A. Gibbs,Richard A. Gibbs,Richard P. Lifton,Richard P. Lifton,Daniel G. MacArthur,Daniel G. MacArthur,Tara C. Matise,James R. Lupski,James R. Lupski,David Valle,Michael J. Bamshad,Michael J. Bamshad,Ada Hamosh,Shrikant Mane,Deborah A. Nickerson,Heidi L. Rehm,Heidi L. Rehm,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria +36 more
TL;DR: Mendelian disease genomic research has undergone a massive transformation over the last decade as discussed by the authors, and the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration.
Posted ContentDOI
Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants
Danny E. Miller,Danny E. Miller,Arvis Sulovari,Ting Wang,Loucks H,Kendra Hoekzema,Katherine M. Munson,Alexandra P. Lewis,Fuerte Epa,Catherine R Paschal,Catherine R Paschal,Jenny Thies,James T. Bennett,Ian A. Glass,Dipple Km,Dipple Km,Karynne E. Patterson,Bonkowski Es,Nelson Z,Audrey Squire,Megan C. Sikes,Beckman E,Robin L. Bennett,Dawn L. Earl,Won Hee Lee,Rando Allikmets,Perlman Sj,Penny M Chow,Anne V. Hing,Adam Mp,Angela Sun,Christina Lam,Christina Lam,Christina Lam,Chang I,Timothy J. Cherry,Jessica X. Chong,Michael J. Bamshad,Michael J. Bamshad,Deborah A. Nickerson,Heather C Mefford,Dan Doherty,Evan E. Eichler,Evan E. Eichler +43 more
TL;DR: T-LRS can accurately predict pathogenic copy number variants and triplet repeat expansions, resolve complex rearrangements, and identify single-nucleotide variants not detected by other technologies, including short-read sequencing.
Posted Content
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features Running title: Mendelian gene discovery by social networking
Jessica X. Chong,Joon-Ho Yu,Peter Lorentzen,Karen M. Park,Seema M. Jamal,Holly K. Tabor,Anita Rauch,Eugen Boltshauser,Karynne E. Patterson,Deborah A. Nickerson,Michael J. Bamshad,Treuman Katz +11 more
TL;DR: The Repository for Mendelian Genomics Family Portal is developed, a web-based tool that enables families, clinicians and researchers to search for gene matches based on analysis of phenotype and exome data deposited into the RMD-FP.