David Porubskỳ
- The complete sequence of a human genome
2022/03/31 by Sergey Nurk, Sergey Koren, Arang Rhie +97 · 119 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomic variations and chromosomal abnormalities #Genomics and Phylogenetic Studies
- A draft human pangenome reference
2023/05/10 by Wen‐Wei Liao, Mobin Asri, Jana Ebler +97 · 73 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Genetic Neurodegenerative Diseases #Genomics and Rare Diseases
- Telomere-to-telomere assembly of a complete human X chromosome
2020/07/14 by Karen H. Miga, Sergey Koren, Arang Rhie +50 · 16 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomics and Phylogenetic Studies #RNA modifications and cancer
- Complete sequencing of ape genomes
2025/04/09 by DongAhn Yoo, Arang Rhie, Prajna Hebbar +97 · 1 voice · 20 citations
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · Psychology · #Genomics and Phylogenetic Studies #Chromosomal and Genetic Variations #Primate Behavior and Ecology
- Human de novo mutation rates from a four-generation pedigree reference
2025/04/23 by David Porubskỳ, Harriet Dashnow, Thomas A. Sasani +44 · 1 voice · 10 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
2022/05/01 by David Porubsky, David Porubskỳ, Wolfram Höps +25 · 1 voice · 4 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · Medicine · #Chromosomal and Genetic Variations #Genomic variations and chromosomal abnormalities #Prenatal Screening and Diagnostics