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List of works by Katherine M Munson

A draft human pangenome reference

scientific article published on 10 May 2023

A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo

scientific article published on 14 February 2020

Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes

scientific article published on 01 October 2019

An evolutionary driver of interspersed segmental duplications in primates

scientific article published on 10 August 2020

Base-pair-resolution genome-wide mapping of active RNA polymerases using precision nuclear run-on (PRO-seq).

scientific article

CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

scientific article published on 15 October 2020

Conservation of dichromatin organization along regional centromeres

scientific article published on 20 April 2023

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

scientific article published in January 2018

Discovery and genotyping of structural variation from long-read haploid genome sequence data.

scientific article

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

scientific article published in February 2018

Dynamics of heat shock factor association with native gene loci in living cells

scientific article published on 23 August 2006

Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C

scientific article published on 28 April 2021

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

scientific article published on 07 December 2020

High-resolution comparative analysis of great ape genomes

scientific article published in Science

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

scientific article published on 11 November 2019

Increased mutation and gene conversion within human segmental duplications

scientific article published on 10 May 2023

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

scientific article published on 07 October 2016

Long-read sequence assembly of the gorilla genome

scientific article published on April 2016

Multi-platform discovery of haplotype-resolved structural variation in human genomes

scientific article published on 16 April 2019

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

scientific article published on 04 May 2020

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

scientific article published on 23 April 2018

Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

scientific article

Targeted long-read sequencing identifies missing disease-causing variation

scientific article published on 02 July 2021

The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes

preprint article published in December 2023

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

scientific article published on 24 October 2019

The complete sequence and comparative analysis of ape sex chromosomes

scholarly article published in June 2024

The structure, function and evolution of a complete human chromosome 8

scientific article published on 07 April 2021

Transcriptional fates of human-specific segmental duplications in brain

scientific article published on 18 September 2018

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