2022
Massively parallel enrichment of low-frequency alleles enables duplex sequencing at low depth
Gydush G, Nguyen E, Bae JH, Blewett T, Rhoades J, Reed SC, Shea D, Xiong K, Liu R, Yu F, Leong KW, Choudhury AD, Stover DG, Tolaney SM, Krop IE, Christopher Love J, Parsons HA, Mike Makrigiorgos G, Golub TR, Adalsteinsson VA. Massively parallel enrichment of low-frequency alleles enables duplex sequencing at low depth. Nature Biomedical Engineering 2022, 6: 257-266. PMID: 35301450, PMCID: PMC9089460, DOI: 10.1038/s41551-022-00855-9.Peer-Reviewed Original ResearchConceptsLow-frequency mutationsDuplex SequencingNumber of lociLow-frequency allelesWhole-genome sequencingHuman cell linesSingle nucleotide polymorphismsGenomic DNAWhole-exome sequencingMutation enrichmentParallel enrichmentBreast tumor samplesSequencingLociMutationsDistinct mutationsCell linesDNADetection of mutationsReads
2019
Reversion and non-reversion mechanisms of resistance (MoR) to PARP inhibitor (PARPi) or platinum chemotherapy (chemotx) in patients (pts) with BRCA1/2 -mutant metastatic breast cancer (MBC).
Waks A, Cohen O, Kochupurakkal B, Kim D, Wander S, Buendia-Buendia J, Helvie K, Matulonis U, Krop I, Tolaney S, Winer E, D'Andrea A, Shapiro G, Lin N, Wagle N. Reversion and non-reversion mechanisms of resistance (MoR) to PARP inhibitor (PARPi) or platinum chemotherapy (chemotx) in patients (pts) with BRCA1/2 -mutant metastatic breast cancer (MBC). Journal Of Clinical Oncology 2019, 37: 1085-1085. DOI: 10.1200/jco.2019.37.15_suppl.1085.Peer-Reviewed Original ResearchFork protectionRAD51 fociHomologous recombinationWhole-exome sequencingReplication fork protectionDNA end resectionPARP inhibitorsReversion mutationsIntact homologous recombinationEnd resectionGenomic dataBRCA1/2 proteinsMetastatic tumor biopsiesExome sequencingMutationsGenesResponse/resistanceGermline DNAWES analysisIntrinsic resistanceReversionSequencingProteinDNAAlterations