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Article

Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing.

Human mutation - 1 Apr 2020

Seiden Allison H, Richter Felix, Patel Nihir, Rodriguez Oscar L, Deikus Gintaras, Shah Hardik, Smith Melissa, Roberts Amy, King Eileen C, Sebra Robert P, Sharp Andrew J, Gelb Bruce D

Abstract excerpt

The mechanisms underlying de novo insertion/deletion (indel) genesis, such as polymerase slippage, have been hypothesized but not well characterized in the human genome. We implemented two methodological improvements, which were leveraged to dissect indel mutagenesis. We assigned de novo variants to parent-of-origin (i.e., phasing) with low-coverage long-read whole-genome sequencing, achieving better phasing...

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Identifiers

PMID: 31898844
DOI: 10.1002/humu.23971
PMCID: PMC7069802

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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