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Showing 1–5 of 5 results

Advanced filters: Author: Harriet Dashnow Clear advanced filters

Human de novo mutation rates from a four-generation pedigree reference

Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set to understand the most fundamental processes underlying human genetic variation.

David Porubsky
Harriet Dashnow
Evan E. Eichler
ResearchOpen Access23 Apr 2025
Nature

P: 1-10
Characterization and visualization of tandem repeats at genome scale

A set of tools maps tandem repeats across complete genomes.

Egor Dolzhenko
Adam English
Michael A. Eberle
Research02 Jan 2024
Nature Biotechnology

Volume: 42, P: 1606-1614
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

Zornitza Stark
Harriet Dashnow
Paul A James
Research23 Aug 2017
European Journal of Human Genetics

Volume: 25, P: 1268-1272
Sequencing and characterizing short tandem repeats in the human genome

This Review describes tools and approaches for characterizing short tandem repeats in the human genome from whole-genome sequencing data. Furthermore, the authors discuss how these recent developments have helped to better understand the effect of short tandem repeats on human health and disease.

Hope A. Tanudisastro
Ira W. Deveson
Daniel G. MacArthur
Reviews16 Feb 2024
Nature Reviews Genetics

Volume: 25, P: 460-475
Effective variant filtering and expected candidate variant yield in studies of rare human disease

Brent S. Pedersen
Joe M. Brown
Aaron R. Quinlan
ResearchOpen Access15 Jul 2021
npj Genomic Medicine

Volume: 6, P: 1-8