I have an unsupported version of BLASR that does better alignment across large gaps. I have used this to simply count indel variants (really mobile element insertion) using PacBio reads. PM me if you want access to this; I've been hesitant to post it online since it is on a branch that is not updated with bug fixes, etc.. The unsupported version uses an affine alignment penalty. Without this, bases tend to "bleed" out into gaps and make it difficult to call exactly where a gap is.
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At the intersection of cytogenetics and genomics lies the exciting field of cytogenomics. It focuses on studying chromosomes at a molecular scale, involving techniques that analyze either the whole genome or particular DNA sequences to examine variations in structure and behavior at the chromosomal or subchromosomal level. By integrating cytogenetic techniques with genomic analysis, researchers can effectively investigate chromosomal abnormalities related to diseases, particularly...09-26-2023, 06:26 AM -
Cancer research has been transformed through numerous molecular techniques, with RNA sequencing (RNA-seq) playing a crucial role in understanding the complexity of the disease. Maša Ivin, Ph.D., Scientific Writer at Lexogen, and Yvonne Goepel Ph.D., Product Manager at Lexogen, remarked that “The high-throughput nature of RNA-seq allows for rapid profiling and deep exploration of the transcriptome.” They emphasized its indispensable role in cancer research, aiding in biomarker...09-07-2023, 11:15 PM
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