Sequencing studies have identified hundreds of genes containing rare coding variants with association to disease burden23,24,25,26. These variants often have large effect sizes but explain a modest degree of total disease heritability27. To explore the effect of rare genetic variation on cellular mor...
Drug resistance is a principal limitation to the long-term efficacy of cancer therapies. Cancer genome sequencing can retrospectively delineate the genetic basis of drug resistance, but this requires large numbers of post-treatment samples to nominate ca
RNA seq is a method of high-throughput sequencing of cDNA in order to gain information about a sample's RNA content. In addition to determining an RNA sequence of a specific sample, RNA-seq provides information regarding an organism's transcriptome, including information regarding abundances of ...
3 The GATA2 coding region, implicated in sporadic myeloid disease,12 is targeted by this panel. IA cohort Twenty-seven consecutive adult patients had clinical sequencing in an evaluation of myeloid malignancy and were diagnosed with proven or probable IA from March 2015 through December 2017 (...
Lack of Time Dimension: SIPOC typically doesn’t include a time dimension, so it doesn’t represent the timing or sequencing of process steps. For processes where timing is critical, SIPOC alone may not be sufficient. Static Representation: SIPOC is a static representation of a process at a ...
All constructs have been verified by DNA sequencing. Method details Gene and protein nomenclature Here we have extended the general T2SS nomenclature to the P. aeruginosa Xcp T2SS components. Thus, former XcpT, U, V, W and X proteins are now labelled XcpG, H, I, J and K in agreement ...
These patients were classified as ICF1 patients (Necker Hospital, Paris, France) based on mutations found in DNMT3B using previously described sequencing methods[12, 27]. Written informed consent was obtained from the parents of the patients. Primary cells and cell lines Primary fibroblasts (...
94-P: Physical Linkage of Genes Adjacent to KIR2DL5 Identifies Thirty Allele-Level Haplotypes in an African American Population KIR3DL1 and KIR3DS1 allele frequencies were determined by DNA sequencing of the complete coding regions from 100 random unrelated African Americans. Alleles 3DL1*01501 (...
large-scale sequencing studies have failed to find genetic aberrations that drive metastatic progression. Unlike tumorigenesis, whose causal mutations are well characterized in a variety of cancers, metastasis is associated with few recurrent genetic events2,3,4. Second, the spread of cancer cells to...
There is a lack of well validated prognostic biomarkers in osteosarcoma, a rare, recalcitrant disease for which treatment standards have not changed in over 20 years. We performed microRNA sequencing in 74 frozen osteosarcoma biopsy samples, constituting