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Lista de obras de 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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Conservation of dichromatin organization along regional centromeres

artículo científico publicado en 2023

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2021

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

artículo científico publicado en 2020

High-resolution comparative analysis of great ape genomes

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Long-read sequence assembly of the gorilla genome

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

Targeted long-read sequencing identifies missing disease-causing variation

artículo científico publicado en 2021

The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes

artículo científico publicado en 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

artículo científico publicado en 2024

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

artículo científico publicado en 2021

Transcriptional fates of human-specific segmental duplications in brain

scientific article published on 18 September 2018

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