An article published in GenomeMedicine presents ACT-discover: a novel method of allele-specific haplotype phasing from a tumour to explore ongoing tumour evolution.
] with manual review. Of the cfDNA samples, 6 samples had sufficient tumour purity to estimate copy number aberrations while the remaining 49 had very low tumour purity . The mean purity of these 31 samples was 54% .
In order to increase the power to detect mutations in the cfDNA samples, mutations confidently called in other samples of the same patient were leveraged. However, to reduce the rate of false-positive mutations, multiple thresholds were explored. We reasoned thatmutations in cfDNA samples should tend to be patient-specific, unless they resided in driver mutations. Conversely, artefactual mutations or sequencing noise, are more likely to be recurrent across samples from different patients.
We observed that adopting filters such that a variant read count of 3 or more was required as well as a VAF of greater than 1% or 1.5%, provided a reasonable balance between a high number of likely true positives and a very low estimated number of false positives .In the majority of cfDNA samples , the tumour purity was estimated as lower than 5%, meaning analysis was not possible using ASCAT [].
For each of these minimum consistent genomic regions, the sample with the largest segmentBAF was selected, and all SNPs associated with the segment were classified as belonging to allele A or B based on the individual BAF estimates within that sample being greater or less than 0.5, respectively. The classification of SNPs was then applied to all other samples, including those with no discernible tumour content, in a given patient.
Brasil Últimas Notícias, Brasil Manchetes
Similar News:Você também pode ler notícias semelhantes a esta que coletamos de outras fontes de notícias.
Discover how this Manchester events space takes care of its clientsManchester Central offers a full suite of services under one roof to ensure that events are dynamic and run smoothly
Consulte Mais informação »
Researchers discover a novel genetic disorder associated with neurodevelopmental differencesResearchers from Children's Hospital of Philadelphia (CHOP) and Princeton University have discovered a novel genetic disorder associated with neurodevelopmental differences. The discovery identified the disorder in 21 families from all over the world. The study 'Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish' is published in Science Advances today, April 26.
Consulte Mais informação »
Cops discover cannabis farm during bust of old Glasgow job centreA probe has been launched after cops busted an old job centre site in Glasgow.
Consulte Mais informação »
Scientists discover the real meaning of a selfie - and why we all take themThe photos can 'document the bigger meaning of a moment' say experts at Ohio State University, who believe we don't only take them for reasons of self promotion and narcissism.
Consulte Mais informação »
Man loses family after DNA test leads to wife asking for divorceThe dad destroyed his 12 year marriage as well as his relationship with his kids when he suspected he might not have fathered one of his three children - and demanded they conducted a test
Consulte Mais informação »
Human remains found in Nottinghamshire field are 'not ancient'A member of the public made the discover on Coxmoor Road
Consulte Mais informação »