Results 181 to 190 of about 1,041,152 (399)
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
npj Genomic Medicine, 2017 Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield +12 more
doaj +1 more source
A W-test collapsing method for rare variant testing with applications to exome sequencing data of hypertensive disorder [PDF]
arXiv, 2016 Advancement in sequencing technology enables the study of association between complex disorders and rare variants with low minor allele frequencies. One of the major challenges in rare variant testing is lack of statistical power of traditional testing methods due to extremely low variances of single nucleotide polymorphisms.
arxiv
Frontiers in Genetics, 2019 There is a growing attention toward personalized medicine. This is led by a fundamental shift from the ‘one size fits all’ paradigm for treatment of patients with conditions or predisposition to diseases, to one that embraces novel approaches, such as ...
Pawel Suwinski +5 more
semanticscholar +1 more source
Advanced Science, EarlyView.A laser‐induced forward transfer‐assisted microfiltration system is developed for single rare cell sorting from undiluted whole blood. The isolated cell has a high viability, enabling successful ex vivo cell culture and efficient single‐cell RNA sequencing.
Qingmei Xu +16 more
wiley +1 more source
Cancer Communications, Volume 42, Issue 12, Page 1331-1346, December 2022., 2022 Abstract Background Although programmed cell death 1 (PD‐1) blockade plus chemotherapy can significantly prolong the progression‐free survival (PFS) and overall survival (OS) in first‐line settings in patients with driver‐negative advanced non‐small‐cell lung cancer (NSCLC), the predictive biomarkers remain undetermined.
Fengying Wu +39 more
wiley +1 more source
Advanced Science, EarlyView.A novel “prof” cocktail therapy is designed. It screens antigens, selects personalized antigen panels, engineers optimized CAR‐Vδ1 T cells, and tests in patient‐derived GBM organoids, offering hope for effective CAR‐T drugs against heterogeneous solid tumors. Abstract Various challenges, including tumor heterogeneity and inadequate T cell infiltration,
Guidong Zhu +12 more
wiley +1 more source
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]
, 2018 Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S +7 more
core
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Journal of the American Society of Nephrology, 2019 BACKGROUND Whole-exome sequencing (WES) finds a CKD-related mutation in approximately 20% of patients presenting with CKD before 25 years of age. Although provision of a molecular diagnosis could have important implications for clinical management ...
Nina Mann +34 more
semanticscholar +1 more source
Advanced Science, EarlyView.The study innovatively integrates single‐cell electric impedance identification and drug screening on a semiconductor chip, addressing tumor heterogeneity limitations. The system achieves label‐free cancer cell recognition while concurrently evaluating drug efficacy on cancer cells and toxicity on noncancerous cells.
Wenhao Hui +13 more
wiley +1 more source