February 07, 2022 article Open access Curated variation benchmarks for challenging medically relevant autosomal genes Nature Biotechnology DOI: 10.1038/s41587-021-01158-1 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 8 stored of 271 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications 2025 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology RNA modifications and cancer Open access 38 citations Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications 2025 Research Square preprint Biochemistry, Genetics and Molecular Biology RNA modifications and cancer Open access 1 citations Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet 2023 Genome biology article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access 12 citations Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort 2023 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access 9 citations Comparison and benchmark of structural variants detected from long read and long-read assembly 2023 Briefings in Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access 15 citations Additional file 1 of Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet 2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access 0 citations Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet 2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access 6 citations Comparison and benchmark of long-read based structural variant detection strategies 2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access 4 citations 8 results References 0