Christine R. Beck

The paper presents a population-scale Y chromosome reference panel with 142 assemblies, revealing structural and epigenetic variation across 180,000 years of evolution.

The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

Hybrid HiFi/ultra-long ONT assemblies of 65 diverse humans yield 130 haplotypes, 1,246 complete centromeres, and a pangenome panel enabling short-read genome inference at median QV 45.

The paper identifies SD-mediated rearrangements in mouse genomes using long-read sequencing and other methods, revealing their impact on gene content and function.

The paper presents haplotype-resolved genomes of six ape species with high accuracy and provides comparative analyses to study evolutionary diversity and gene family evolution.

The paper examines TE-driven alternative splicing in breast cancer using long-read RNA sequencing, identifying tumor-specific splicing events and TE-derived isoforms with potential therapeutic implications.

The paper develops a new method to detect complex structural variants in large genomic regions, revealing previously undetectable structures and improving breakpoint accuracy.

The paper resolves the amylase locus at nucleotide resolution in modern and ancient humans, showing AMY1 copy number variation predated agriculture and was driven by recombination.

The paper introduces NAHRwhals, a method to detect serial structural variations in long-read genomes, identifies 37 sSV loci in humans, and shows their relevance to disease.

The paper identifies ancestral bias in structural variant breakpoint placement, showing that small allelic variants contribute to inconsistent breakpoint locations across haplotypes.

This study compares variant calling precision and recall of Oxford Nanopore and PacBio HiFi platforms across different sequence coverages.

The paper presents long-read assemblies of 43 diverse human Y chromosomes, revealing extensive structural complexity and variation across 180,000 years of evolution.

The paper tracks the epigenetic fate of endogenous retroviruses during neural differentiation, identifying genetic escapees that evade TRIM28 repression and contribute to gene expression differences.

The paper identifies structural variants in 20 mouse strains using long-read sequencing, revealing transposable elements' role in chromatin remodeling and gene expression in mESCs.

The paper identifies transposable element-mediated rearrangements (TEMRs) in human genomes, showing they are enriched in genic regions and can create risk alleles.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

The paper uses long-read RNA sequencing to identify novel isoforms in breast cancer, finding splicing events associated with patient survival.

The paper identifies recurrent inversions in human genomes and links them to genomic disorders through mutational recurrence and structural diversity.

SvAnna predicts pathogenicity of structural variants in long-read sequencing data by integrating transcript and regulatory annotations with clinical phenotype data, achieving high accuracy in prioritizing pathogenic variants.