Evan E. Eichler
- 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
- Long-read human genome sequencing and its applications
2020/06/05 by Glennis A. Logsdon, Mitchell R. Vollger, Evan E. Eichler · 29 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #CRISPR and Genetic Engineering #Chromosomal and Genetic Variations #Genomics and Phylogenetic Studies
- Complete genomic and epigenetic maps of human centromeres
2022/03/31 by Nicolas Altemose, Glennis A. Logsdon, Andrey V. Bzikadze +56 · 17 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomics and Chromatin Dynamics #Genomics and Phylogenetic Studies
- Genomic data in the All of Us Research Program
2024/02/19 by Manuscript Writing Group, Alexander G. Bick, Ginger Metcalf +93 · 1 voice · 30 citations
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
2015/07/30 by Lot Snijders Blok, Lot Snijders Blok, Erik Madsen +123 · 30 citations
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Congenital heart defects research
- Comparative and demographic analysis of orang-utan genomes
2011/01/25 by Devin P. Locke, LaDeana W. Hillier, Wesley C. Warren +97 · 1 voice · 5 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Chromosomal and Genetic Variations #Genomics and Phylogenetic Studies #HIV Research and Treatment
- Telomere-to-telomere assembly of a complete human X chromosome
2020/07/14 by Karen H. Miga, Sergey Koren, Arang Rhie +50 · 17 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomics and Phylogenetic Studies #RNA modifications and cancer
- LINE-1 Retrotransposition Activity in Human Genomes
2010/06/01 by Christine R. Beck, Pamela Collier, Catriona Macfarlane +5 · 7 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomics and Phylogenetic Studies #RNA and protein synthesis mechanisms
- A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
2014/02/27 by Sébastien Jacquemont, Bradley P. Coe, Bradley P. Coe +11 · 28 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Genomic variations and chromosomal abnormalities #Autism Spectrum Disorder Research #Genetics and Neurodevelopmental Disorders
- The comparative genomics and complex population history ofPapiobaboons
2019/01/04 by Jeffrey Rogers, Muthuswamy Raveendran, R. Alan Harris +39 · 1 voice · 5 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Evolution and Genetic Dynamics #Genomic variations and chromosomal abnormalities
- Programmed loss of millions of base pairs from a vertebrate genome
2009/06/26 by Jeramiah J. Smith, Francesca Antonacci, Evan E. Eichler +1 · 1 voice · 26 citations
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #Genomics and Phylogenetic Studies #Animal Genetics and Reproduction #Chromosomal and Genetic Variations
- Human Copy Number Variation and Complex Genetic Disease
2011/03/02 by Santhosh Girirajan, Catarina D. Campbell, Evan E. Eichler · 3 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases
- Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation
2024/10/17 by Charikleia Karageorgiou, Kwondo Kim, Petar Pajic +20 · 2 voices · 7 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- 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
- The DNA sequence of human chromosome 7
2003/07/01 by LaDeana W. Hillier, Robert S. Fulton, Lucinda A. Fulton +130 · 3 citations
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #RNA and protein synthesis mechanisms #Genomics and Chromatin Dynamics #Chromosomal and Genetic Variations
- 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
- GREGoR: Accelerating Genomics for Rare Diseases
2024/12/18 by Moez Dawood, Ben Heavner, Dawood, Moez +64 · 3 voices
#q-bio.OT