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The Platinum Pedigree: A long-read benchmark for genetic variants

2024-10-03

Abstract excerpt

Recent advances in genome sequencing have improved variant calling in complex regions of the human genome. However, it is difficult to quantify variant calling performance since existing standards often focus on specificity, neglecting completeness in difficult to analyze regions. To create a more comprehensive truth set, we used Mendelian inheritance in a large pedigree (CEPH-1463) to filter variants across Illum...

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Literature Corpus work: acd5cbaa-ab4f-53d2-a304-93458529fd6d
DOI: 10.1101/2024.10.02.616333

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