Nathan Olson

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Variant calling and benchmarking in an era of complete human genome sequences - Nature Reviews Genetics

Apr 14, 2023 | nature.com | Nathan Olson |Fritz J Sedlazeck

AbstractGenetic variant calling from DNA sequencing has enabled understanding of germline variation in hundreds of thousands of humans. Sequencing technologies and variant-calling methods have advanced rapidly, routinely providing reliable variant calls in most of the human genome.

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