www.genengnews.com - The report adds to growing experimental support for the idea that all that extra stuff in the human genes, once referred to as “junk DNA,” is more than functionless, space-filling material that happens to make up nearly 98% of the...
With the help of Moleculo technology , acquired by Illumina releases new service for long reads sequencing i.e., FastTrack Long Reads.
Average read length is around 8,500 base pairs in release dataset. Best thing about this, there...
Bioinformatics relevant research topics are:
genomic scale studies
endogenous mechanisms of mutations, germ line and somatic
computational aspects of immunology in cancer
signalling networks
three-dimensional organization of information in...
www.genome.gov - What is the epigenome?
What does the epigenome do?
What makes up the epigenome?
Is the epigenome inherited?
What is imprinting?
Can the epigenome change?
What makes the epigenome change?
How do changes in the epigenome contribute to...
kallisto
Transcript abundance quantification from RNA-seq data (uses pseudoalignment for rapid determination of read compatibility with targets)
Software (C++)
https://pachterlab.github.io/kallisto/
Sailfish
Estimation of isoform abundances...
github.com - Heap, that enables robustly sensitive and accurate calling of SNPs, particularly with a low coverage NGS data, which must be aligned to the reference genome sequences in advance. To reduce false positive SNPs, Heap determines genotypes and calls...
github.com - indexcov, an efficient estimator of whole-genome sequencing coverage to rapidly identify samples with aberrant coverage profiles, reveal large-scale chromosomal anomalies, recognize potential batch effects, and infer the sex of a...
github.com - VariantBam is a tool to extract/count specific sets of sequencing reads from next-generational sequencing files. To save money, disk space and I/O, one may not want to store an entire BAM on disk. In many cases, it would be more efficient to store...