Watch the exceptional presentations, plus the Q&A panel discussions, on demand from Symposium 2023!

Key Publications

Key Points:

  • 101 consecutive MDS samples were evaluated with traditional cytogenetic methods (karyotyping, FISH, CMA), an 81-gene NGS panel, and OGM
  • OGM found nearly double the number of clinically relevant pathogenic variants compared to traditional cytogenetics
  • OGM findings could inform different prognostic risk classification or identify important additional variants in 28% of study participants
  • Changes to CCSS and IPSS-R risk scores in 21% and 17% of subjects, respectively.
  • Additional 13% of samples had additional alternations researchers suggest could be used for therapy selection/response and disease monitoring
  • The combination of OGM and NGS resulted in the detection of at least one clinically significant clonal abnormality in 97 of 101 samples

Key Points:

  • Retrospective validation study analyzing 94 unique amniocentesis samples previously characterized with karyotyping, FISH, and/or CMA
  • OGM was 100% concordant with findings from traditional cytogenetics across multiple types of chromosomal aberrations (aneuploidies, triploidy, deletions, duplications, translocations, isochromosomes, markers, AOH)
  • OGM detected 64 additional reportable SVs in 43 samples

Key Points:

  • Highlights the performance of OGM in acute myeloid leukemia, myelodysplastic syndromes, and B cell acute lymphoblastic leukemia
  • Illustrates how the OGM workflow can solve common challenges in testing for hematologic malignancies
  • Discusses the strengths and weaknesses of OGM compared to traditional methods

Key Points:

  • Report of two unrelated subjects with a de novo 16p13.11p11.2 triplication associated with a 16p11.2 duplication, detected by CMA
  • Short-read WGS could not map any of the breakpoints
  • OGM determined the relative orientation of the triplicated and duplicated segments as well as the genomic positions of the breakpoints
  • Insights from OGM allowed authors to unravel the mechanism of these complex chromosomal rearrangements involving segmental duplications, propose a mechanism, and report a new clinically recognizable genomic disorder”

Key Points:

  • Case series evaluating three subjects with clinically confirmed chronic granulomatous disease that were negative by NGS (panel and WES)
  • OGM was performed and identified a novel pathogenic ~1.5 kbp deletion in a causative gene in 1/3 subjects
  • Demonstrates ability to identify disease-causing variants missed by sequencing technologies”

Publications

title date Authors
ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of ... October 13, 2022 C Alejandra Morato Torres, Faria Zafar, Yu-Chih Tsai, Jocelyn Palafox Vazqu
ez, Michael D Gallagher, Ian McLaughlin, Karl Hong, Jill Lai, Joyce Lee, Am
anda Chirino-Perez, Angel Omar Romero-Molina, Francisco Torres, Juan Fernan
dez-Ruiz, Tetsuo Ashizawa, Janet Ziegle, Francisco Javier Jiménez Gil, Bir
gitt Schüle
The snapdragon genomes reveal the evolutionary dynamics of the S locus ... October 10, 2022 Sihui Zhu, Yu'e Zhang, Lucy Copsey, Dongfeng Zheng, Enrico Coen, Yongbiao X
ue, Qianqian Han
Molecular and genetic mechanisms conferring dissolution of dioecy in Diospyros oleifera ... October 9, 2022 Peng Sun Jr., Soichiro Nishiyama Jr., Huawei Li Jr., Yini Mai Jr., Weijuan
Han Jr., Yujing Suo Jr., Chengzhi Liang Sr., Huilong Du Jr., Songfeng Diao
Jr., Yiru Wang Jr., Jiaying Yuan Jr., Yue Zhang Jr., Ryutaro Tao Sr., Fangd
ong Li Sr., Jianmin Fu Sr.
Optical genome mapping identifies clinically relevant genomic rearrangements in prostate ... October 8, 2022 Yeeun Shim, Jongsoo Lee, Jieun Seo, Cheol Keun Park, Saeam Shin, Hyunho Han
, Seung-Tae Lee, Jong Rak Choi, Byung Ha Chung, Young Deuk Choi
A contiguous de novo genome assembly of sugar beet EL10 (Beta vulgaris ... October 8, 2022 J Mitchell McGrath, Andrew Funk, Paul Galewski, Shujun Ou, Belinda Townsend
, Karen Davenport, Hajnalka Daligault, Shannon Johnson, Joyce Lee, Alex Has
tie, Aude Darracq, Glenda Willems, Steve Barnes, Ivan Liachko, Shawn Sulliv
an, Sergey Koren, Adam Phillippy, Jie Wang, Tiffany Liu, Jane Pulman, Kevin
Childs, Shengqiang Shu, Anastasia Yocum, Damian Fermin, Effie Mutasa-Gött
gens, Piergiorgio Stevanato, Kazunori Taguchi, Rachel Naegele, Kevin Dorn
DNA in nanochannels – Theory and ... October 7, 2022 Karolin Krykholm, Vilhelm Muller, KK Sriram, Kevin D Dorfman, Fredrik Weste
rlund
Inversion polymorphism in a complete human genome ... October 6, 2022 David Porubsky, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram
Höps, Hufsah Ashraf, Patrick Hasenfeld, Human Pangenome Reference Consort
ium (HPRC), Human Genome Structural Variation Consortium (HGSVC), Benedict
Paten, Ashley D. Sanders, Tobias Marschall, Jan O. Korbel, Evan E. Eichler
Identification and characterization of two DMD pedigrees with large inversion mutations ... October 5, 2022 Chang Geng, Ciliu Zhang, Pidong Li, Yuanren Tong, Baosheng Zhu, Jing He, Ya
nhuan Zhao, Fengxia Yao, Li-Ying Cui, Fan Liang, Yang Wang, Yaru Wang, Hong
shuai Jin, Dandan Lang, Shanlin Liu, Depeng Wang, Min S. Park, Lin Chen, Ji
ng Peng, Yi Dai
Chromosome-scale genome assembly of a Japanese chili pepper landrace, Capsicum annuum ... September 30, 2022 Kenta Shirasawa, Munetaka Hosokawa, Yasuo Yasui, Atsushi Toyoda, Sachiko Is
obe
The generation of the first chromosome-level de-novo genome assembly and the development ... September 29, 2022 Guangtu Gao, Geoffrey C. Waldbieser, Ramey C. Youngblood, Dongyan Zhao, Mic
hael R. Pietrak, Melissa S. Allen, Jason A. Stannard, John T. Buchanan, Ros
eanna L. Long, Melissa Milligan, Gary Burr, Katherine Mejía-Guerra, Moira
J. Sheehan, Brian E. Scheffler, Caird E. Rexroad III, Brian C. Peterson, Yn
iv Palti

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