Use of mate-pair sequencing to characterize a complex cryptic BCR/ABL1 rearrangement observed in a newly diagnosed case of chronic myeloid leukemia.
Sign Up to like & getrecommendations! Published in 2018 at "Human pathology"
DOI: 10.1016/j.humpath.2018.09.010
Abstract: Chronic myeloid leukemia is characterized by a t(9;22)(q34;q11.2) resulting in BCR/ABL1 fusion located on the derivative chromosome 22, also known as the Philadelphia chromosome. We present the first case, to our knowledge, of chronic myeloid… read more here.
Keywords: pair sequencing; myeloid leukemia; bcr abl1; chronic myeloid ... See more keywords
Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma
Sign Up to like & getrecommendations! Published in 2019 at "Blood Cancer Journal"
DOI: 10.1038/s41408-019-0255-z
Abstract: Fluorescence in situ hybridization (FISH) is currently the gold-standard assay to detect recurrent genomic abnormalities of prognostic significance in multiple myeloma (MM). Since most translocations in MM involve a position effect with heterogeneous breakpoints, we… read more here.
Keywords: pair sequencing; fluorescence situ; multiple myeloma; mate pair ... See more keywords
How can mate-pair sequencing be utilized for cancer patients?
Sign Up to like & getrecommendations! Published in 2017 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2017.1259569
Abstract: NGS utilizes the power of massively parallel sequencing to generate large numbers of sequences simultaneously. The first NGS platform (454) could generate 20 million base pairs of sequence from a single run [1] which was… read more here.
Keywords: pair sequencing; output; platform; sequencing utilized ... See more keywords
SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads
Sign Up to like & getrecommendations! Published in 2017 at "BMC Genomics"
DOI: 10.1186/s12864-017-4021-y
Abstract: BackgroundCharacterization of genomic structural variation (SV) is essential to expanding the research and clinical applications of genome sequencing. Reliance upon short DNA fragment paired end sequencing has yielded a wealth of single nucleotide variants and… read more here.
Keywords: pair sequencing; sequencing data; structural variation; mate pair ... See more keywords