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Nuclear gene proximity and protein interactions shape transcript covariations in mammalian single cells.
(NATURE RESEARCH, 2020-10-28)
Single-cell RNA sequencing studies on gene co-expression patterns could yield important regulatory and functional insights, but have so far been limited by the confounding effects of differentiation and cell cycle. We apply ...
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
(MASSACHUSETTS MEDICAL SOC, 2021-11-11)
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care ...
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.
(NATURE PORTFOLIO, 2020-01-16)
Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential ...
The Potency of a KRAS Silent Variant.
(Massachusetts Medical Society, 2022-06-30)
Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome.
(WILEY, 2022-09-15)
Cancer patients treated with capecitabine and oxaliplatin (XELOX) often develop hand-foot syndrome (HFS) or palmar-plantar erythrodysesthesia. Genetic variation in ST6GAL1 is a risk factor for type-2 diabetes (T2D), a ...
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.
(NATURE PORTFOLIO, 2021-10-05)
Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer ...