Adam Ameur

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

The paper compares variant calling performance between Illumina NovaSeq X Plus and Element AVITI sequencing platforms using whole genome sequencing of human tumor cell lines, finding comparable results with minor differences in specific genomic contexts.

This study uses long-read sequencing to analyze CRISPR-Cas9 editing outcomes and mosaicism in zebrafish, revealing genetic mosaicism in founder fish and its inheritance to offspring.

The paper investigates how different genome references affect inversion detection, showing that T2T-CHM13 and long-read sequencing improve resolution of challenging inversions.

The paper introduces PathSTR, a tool for analyzing tandem repeats using long-read sequencing, and demonstrates its application in a Myotonic Dystrophy type 1 case.

This study evaluates HiFi Revio long-read sequencing for detecting chromosomal rearrangements in rare diseases, showing high accuracy for breakpoint junctions and derivative chromosome structures.

This study uses long-read sequencing to analyze the genomic architecture of single human cells, revealing high-resolution genetic variation and structural variants.

The paper introduces Kita as a target for CRISPR/Cas9 screens in zebrafish larvae to improve the reliability and efficiency of genetic screens for complex traits.

This study shows CRISPR-Cas9 induces structural variants and off-target mutations in zebrafish that persist through generations.

A polygenic risk score predicts mosaic loss of chromosome Y in men's blood cells, with higher scores linked to increased risk.

The paper analyzes nuclear and cytosolic transcriptomes in human brain tissue, showing significant differences in RNA expression and subcellular localization patterns.

The paper introduces amplification-free long-read sequencing protocols to detect CRISPR-Cas9 off-target binding sites, identifying many previously undetected sites that are not predicted by existing software.

The paper uses a CRISPR/Cas9-based approach in zebrafish to identify genes affecting heart rate variability and confirms the role of known genes while highlighting a novel gene.

Xdrop enriches long DNA molecules from low-input samples using droplet sorting, enabling high-resolution analysis of complex genomic regions.

The paper develops SweHLA, a high-confidence HLA typing resource from 1,000 Swedish genomes, showing high concordance across software and highlighting discordant alleles potentially linked to disease.

The paper introduces the Medical Genome Reference Bank, a resource of whole genome sequences and phenotypes from 2,570 healthy elderly Australians, showing fewer disease-associated variants and age-related somatic changes linked to grip strength.

The paper performs de novo assembly of two Swedish genomes, identifies novel sequences absent from GRCh38, and shows improved variant calling with these sequences.

Combining amplification-free CRISPR-Cas9 targeted enrichment with Single Molecule, Real-Time (SMRT) long-read sequencing captures and sequences human repeat-expansion disease loci across HTT, FMR1, C9orf72, and ATXN10 without PCR bias.

This study develops methods to detect, quantify, and visualize circRNAs in human tissues and shows their potential as diagnostic biomarkers in blood and serum.

SweGen provides a high-quality whole-genome map of genetic variation in the Swedish population, useful for clinical genetics and association studies.