These are sequences that we don’t interrogate today because they are not in the human reference genome—so if they are…
Sequencing
the art of reading
Duplicated genes are hard differentiate, among human genes there are at least 75 partially “camouflaged” with their duplicates, but method…
The UK’s initiative to sequence 100 thousand genomes reached its goal after operating for five years and five months. Whole-genome…
Machine learning model have successfully detected mutations in genomes of patients with cancer diseases. Training dataset consisted of 41 thousand…
A new method, fragment size analysis, has helped to more precisely detect circulating tumor DNA in blood samples. Tumor cells…
Pediatric patients with diffuse midline gliomas have acquired a new tool: non-invasive liquid biopsy detecting essential variantions of H3F3A gene….
A new version of COSMIC (Catalogue Of Somatic Mutations In Cancer) is available under https://cancer.sanger.ac.uk/cosmic. 2018 v86 relase of the…
How big genomic sequencing projects are needed? It turns out that after sequencing just 6.5m people in the US (or…
Single genetic testing laboratory would need to reclassify 1 in every 4 reports throughout the past decade, as a consequence…
Out of 6240 participants involved in a project of Clinical Sequencing Exploratory Research (CSER) Consortium, 74 have gotten additional medical…