Tag Archives: whole-genome sequencing

GROM – lightning-fast genome variant detection

rna-seq

Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users to run multiple algorithms to find ...

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The diagnostic power of RNA-seq

rna-seq

Whole-exome sequencing (WES) and whole-genome sequencing (WGS) can only identify rare Mendelian genetic diseases in up to 50% of cases; our ability to interpret the functional and clinical importance of the genetic variants they identify is limited. Here, Cummings et ...

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A defining decade in DNA (and RNA) sequencing

rna-seq

from Nature Methods The past decade has seen a transformation, fueled by the availability of NGS platforms, in applications based on generating DNA and RNA sequence. There are more than 50 multiletter-acronym or ‘MLA-seq’ applications for interrogating a wide variety ...

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