There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes+20 more
wiley +1 more source
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser+11 more
wiley +1 more source
Contrasting patterns of spatial genetic differentiation in two east asian five-needle pine species, Pinus koraiensis and P. armandii [PDF]
Two species of East Asian five-needle pines of the section Strobus, Korean pine, Pinus koraiensis Sieb. et Zucc. and Armand's pine, Pinus armandii Franch are traditionally placed in two different subsections, Cembrae and Strobi, respectively.However ...
Belokon M.-M.+2 more
doaj
Purpose. Study of the peculiarities of the genetic structure based on genetic-biochemical markers in age-1+ and 2+ rainbow trout of the fish farm “Sloboda Banilov”, Chernivtsi region Methodology.
Р. Mendrishora+2 more
doaj +1 more source
Age of an allele and gene genealogies of nested subsamples for populations admitting large offspring numbers [PDF]
Coalescent processes, including mutation, are derived from Moran type population models admitting large offspring numbers. Including mutation in the coalescent process allows for quantifying the turnover of alleles by computing the distribution of the number of original alleles still segregating in the population at a given time in the past.
arxiv
Identification of intimin alleles in pathogenic Escherichia coli by PCR-restriction fragment length polymorphism analysis [PDF]
A rapid two-step identification method based on PCR-RFLP analysis of the intimin gene was developed to differentiate specific alleles in pathogenic Escherichia coli.
Nebbia, Patrizia+3 more
core
Germline variants in CDKN2A wild‐type melanoma prone families
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen+5 more
wiley +1 more source
Quadri-allele frequency spectrum in a coalescent topology for mutations in non-constant population size [PDF]
The sample frequency spectrum of a segregating site is the probability distribution of a sample of alleles from a genetic locus, conditional on observing the sample to have more than one clearly different phenotypes. We present a model for analyzing quadri-allele frequency spectrum, where the ancestral population diverged into three populations at a ...
arxiv
Using Microsatellites to Assess Genetic Variation in a Selective Breeding Program of Chinese Bay Scallop (Argopecten irradians irradians) [PDF]
This study aimed to improve our understanding of the genetics of the Chinese bay scallop (Argopecten irradians irradians), one of the most important maricultured shellfish in China.
Li Li., Zhang G., Zhang S.
core +1 more source
High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. [PDF]
Chromosome 17q11-q21 is a region of the genome likely to harbor susceptibility to autism (MIM(209850)) based on earlier evidence of linkage to the disorder.
Cantor, RM+6 more
core +3 more sources