[HTML][HTML] Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for …

MM Li, M Datto, EJ Duncavage, S Kulkarni… - The Journal of molecular …, 2017 - Elsevier
Widespread clinical laboratory implementation of next-generation sequencing–based
cancer testing has highlighted the importance and potential benefits of standardizing the …

[PDF][PDF] Integrated proteogenomic characterization across major histological types of pediatric brain cancer

…, JM Wang, M Broberg, RK Chu, RJ Moore, ME Monroe… - Cell, 2020 - cell.com
We report a comprehensive proteogenomics analysis, including whole-genome sequencing,
RNA sequencing, and proteomics and phosphoproteomics profiling, of 218 tumors across 7 …

[PDF][PDF] Integrated molecular and clinical analysis of 1,000 pediatric low-grade gliomas

…, MD Taylor, JT Rutka, S Laughlin, M Shroff, M Shago… - Cancer cell, 2020 - cell.com
Pediatric low-grade gliomas (pLGG) are frequently driven by genetic alterations in the RAS-mitogen-activated
protein kinase (RAS/MAPK) pathway yet show unexplained variability in …

[HTML][HTML] Application of next generation sequencing in laboratory medicine

…, F Xu, J Wu, J Schubert, MM Li - Annals of laboratory …, 2021 - ncbi.nlm.nih.gov
The rapid development of next-generation sequencing (NGS) technology, including advances
in sequencing chemistry, sequencing technologies, bioinformatics, and data interpretation…

AACR Project GENIE: 100,000 cases and beyond

TJ Pugh, JL Bell, JP Bruce, GJ Doherty, M Galvin… - Cancer Discovery, 2022 - AACR
AACR Project GENIE has now accrued data from >110,000 tumors, placing it among the
largest repository of publicly available, clinically annotated genomic data in the world. GENIE …

Clinical application of amplicon-based next-generation sequencing in cancer

F Chang, MM Li - Cancer genetics, 2013 - Elsevier
Next-generation sequencing (NGS) technology has revolutionized genomic research by
decreasing the cost of sequencing while increasing the throughput. The focus now is on …

[HTML][HTML] Fusion oncogenes are associated with increased metastatic capacity and persistent disease in pediatric thyroid cancers

…, L Surrey, TW Laetsch, MM Li… - Journal of Clinical …, 2022 - ncbi.nlm.nih.gov
PURPOSE In 2014, data from a comprehensive multiplatform analysis of 496 adult papillary
thyroid cancer samples reported by The Cancer Genome Atlas project suggested that …

[HTML][HTML] Clinical utility of custom-designed NGS panel testing in pediatric tumors

…, M Santi, SK Tasian, AJ Waanders, M Sarmady… - Genome medicine, 2019 - Springer
Background Somatic genetic testing is rapidly becoming the standard of care in many adult
and pediatric cancers. Previously, the standard approach was single-gene or focused …

[HTML][HTML] Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and …

MM Li, E Chao, ED Esplin, DT Miller, KL Nathanson… - Genetics in …, 2020 - Elsevier
The sequencing of tumor-derived DNA to identify tumor-specific variations (biomarkers) with
potential diagnostic, prognostic, or predictive therapeutic implications (hereafter,“tumor …

High incidence of Philadelphia chromosome-like acute lymphoblastic leukemia in older adults with B-ALL

…, SC Reshmi, MM Li, NV Frey, SM Luger, M Carroll… - Leukemia, 2017 - nature.com
Treatment of patients with Philadelphia chromosome-positive B-cell acute lymphoblastic
leukemia (Ph+ B-ALL) with tyrosine kinase inhibitors (TKIs) such as imatinib and dasatinib has …