Kristian Almstrup

Accurate calling of low-frequency somatic mutations by sample-specific modeling of error rates

This paper introduces BBQ, a tool that improves rare somatic variant calling by modeling sample-specific error rates using overlapping reads, reducing false positives compared to existing tools.

Mapping the human sperm proteome across compartments, donors and individual cells

This study maps the human sperm proteome across compartments, donors, and individual cells, revealing conserved and variable proteins and linking mitochondrial dysfunction to male infertility.

Estimating gene conversion tract length and rate from PacBio HiFi data

The paper introduces a method to estimate gene conversion tract length and rate from PacBio HiFi data, showing low visibility of NCO events in human sperm due to low SNV density.

Within-ejaculate sperm selection in humans acts against molecular signatures of age-related disease

The paper identifies within-ejaculate sperm selection in humans that favors sperm with molecular signatures opposing age-related disease.

Insights into gene conversion and crossing-over processes from long-read sequencing of human, chimpanzee and gorilla testes and sperm

This study uses long-read sequencing to analyze gene conversion and crossover events in human, chimpanzee, and gorilla testes and sperm, revealing species-specific patterns and GC bias in gene conversion.

X-chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome

The paper shows that X-chromosome loss in Sertoli cells enables maturation and focal spermatogenesis in Klinefelter syndrome.

Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes

The paper identifies genotype-specific meiotic impairments in infertile men with loss-of-function variants in M1AP or ZZS genes, showing different recombination failures and reproductive outcomes.

Diverse Monogenic Subforms of Human Spermatogenic Failure

This study identifies genetic subforms of non-obstructive azoospermia using exome sequencing and single-cell RNA sequencing, revealing molecular groups of genes involved in spermatogenesis.

A de novo paradigm for male infertility

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.