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Open AccessLongitudinal multi-omics study of palbociclib resistance in HR-positive/HER2-negative metastatic breast cancer
Cyclin-dependent kinase 4/6 inhibitor (CDK4/6) therapy plus endocrine therapy (ET) is an effective treatment for patients with hormone receptor-positive/human epidermal receptor 2-negative metastatic breast ca...
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Open AccessA rare variant analysis framework using public genotype summary counts to prioritize disease-predisposition genes
Sequencing cases without matched healthy controls hinders prioritization of germline disease-predisposition genes. To circumvent this problem, genotype summary counts from public data sets can serve as control...
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Article
Open AccessChemotherapy induces dynamic immune responses in breast cancers that impact treatment outcome
To elucidate the effects of neoadjuvant chemotherapy (NAC), we conduct whole transcriptome profiling coupled with histopathology analyses of a longitudinal breast cancer cohort of 146 patients including 110 pa...
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Open AccessStructure and evolution of double minutes in diagnosis and relapse brain tumors
Double minute chromosomes are extrachromosomal circular DNA fragments frequently found in brain tumors. To understand their evolution, we characterized the double minutes in paired diagnosis and relapse tumors...
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Open AccessThe genomic landscape of pediatric myelodysplastic syndromes
Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. In contrast to adult MDS, little is known about the genomic landscape of pediatric MDS. Here, we describe the somatic and ger...
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Open AccessExtremely low-coverage whole genome sequencing in South Asians captures population genomics information
The cost of Whole Genome Sequencing (WGS) has decreased tremendously in recent years due to advances in next-generation sequencing technologies. Nevertheless, the cost of carrying out large-scale cohort studie...
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Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology
Low-grade neuroepithelial tumors (LGNTs) are diverse CNS tumors presenting in children and young adults, often with a history of epilepsy. While the genetic profiles of common LGNTs, such as the pilocytic astr...
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Open AccessA comprehensive analysis of piRNAs from adult human testis and their relationship with genes and mobile elements
Piwi-interacting RNAs (piRNAs) are a recently discovered class of small non-coding RNAs whose best-understood function is to repress mobile element (ME) activity in animal germline. To date, nearly all piRNA s...
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
A new algorithm for analyzing genome sequences of family members helps identify genes associated with disease.
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Open AccessPhase locking and resetting in human subthalamic neurons
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Open AccessPRC skewness determines synchronization properties of pulse coupled circuits with delay