Article

Pedigree-based estimation of human mobile element retrotransposition rates

2018-12-26

Abstract excerpt

Germline mutation rates in humans have been estimated for a variety of mutation types, including single nucleotide and large structural variants. Here we directly measure the germline retrotransposition rate for the three active retrotransposon elements: L1, Alu, and SVA. We utilized three tools for calling Mobile Element Insertions (MEIs) (MELT, RUFUS, and TranSurVeyor) on blood-derived whole genome sequence (WGS...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 481cb598-e7d1-57e7-808d-e2f2c167584f
DOI: 10.1101/506691

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pedigree-based estimation of human mobile element retrotransposition ratesDOI 10.1101/506691Read

Estimating the retrotransposition rate of human Alu elements.Semantic proximity Read

A comprehensive map of mobile element insertion polymorphisms in humans.Semantic proximity Read

Mobile elements create structural variation: analysis of a complete human genome.Semantic proximity Read

Alu repeat discovery and characterization within human genomes.Semantic proximity Read

Direct identification of <i>de novo</i> mobile element insertions from single molecule sequencing of human spermSemantic proximity Read

The Mutational Dynamics of Short Tandem Repeats in Large, Multigenerational FamiliesSemantic proximity Read

Properties and rates of germline mutations in humans.Semantic proximity Read

The mutational dynamics of short tandem repeats in large, multigenerational families.Semantic proximity Read

AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.Semantic proximity Read

Sequence Analysis and Characterization of Active Human Alu Subfamilies Based on the 1000 Genomes Pilot Project.Semantic proximity Read

Pangenome reference assemblies reveal the variation and recent activity of human LINE-1 retrotransposonsSemantic proximity Read

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.Semantic proximity Read