Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 67,118 bioRxiv papers from 295,271 authors.

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Preprints

A fully phased accurate assembly of an individual human genome

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Ancient human genomes suggest three ancestral populations for present-day Europeans

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Multi-platform discovery of haplotype-resolved structural variation in human genomes

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  • In genomics: 54 out of 4,561
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Efficient de novo assembly of eleven human genomes using PromethION sequencing and a novel nanopore toolkit

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  • In bioinformatics: 85 out of 6,625
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  • Site-wide: 149 out of 67,118

Computational Pan-Genomics: Status, Promises and Challenges

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  • In genomics: 169 out of 4,561
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Telomere-to-telomere assembly of a complete human X chromosome

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  • In bioinformatics: 189 out of 6,625
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  • Site-wide: 357 out of 67,118

Neurodevelopmental disease genes implicated by de novo mutation and CNV morbidity

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  • In genetics: 106 out of 3,775
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Extended haplotype phasing of de novo genome assemblies with FALCON-Phase

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  • In genomics: 290 out of 4,561
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  • Site-wide: 1,143 out of 67,118
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  • Site-wide: 1,894 out of 67,118

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

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  • In genetics: 216 out of 3,775
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  • Site-wide: 3,680 out of 67,118

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

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  • In genomics: 523 out of 4,561
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  • Site-wide: 553 out of 67,118
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  • Site-wide: 1,119 out of 67,118

Human-specific NOTCH-like genes in a region linked to neurodevelopmental disorders affect cortical neurogenesis

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  • In neuroscience: 389 out of 12,032
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  • Site-wide: 8,545 out of 67,118
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  • Site-wide: 17,587 out of 67,118

Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution

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  • Site-wide: 3,581 out of 67,118
  • In developmental biology: 52 out of 1,992
• Year to date:
  • Site-wide: 1,033 out of 67,118
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  • Site-wide: 1,887 out of 67,118

Comparative Annotation Toolkit (CAT) - simultaneous clade and personal genome annotation

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  • In bioinformatics: 784 out of 6,625
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  • Site-wide: 24,671 out of 67,118

Single haplotype assembly of the human genome from a hydatidiform mole

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  • In genomics: 872 out of 4,561
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  • Site-wide: 63,779 out of 67,118
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  • Site-wide: 65,675 out of 67,118

Discovery of large genomic inversions using pooled clone sequencing

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  • In bioinformatics: 969 out of 6,625
• Year to date:
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  • Site-wide: 51,533 out of 67,118

High-Quality Assembly of an Individual of Yoruban Descent

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  • In bioinformatics: 1,055 out of 6,625
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  • Site-wide: 41,296 out of 67,118
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  • Site-wide: 47,211 out of 67,118

A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population

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  • In genetics: 500 out of 3,775
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  • Site-wide: 46,199 out of 67,118
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  • Site-wide: 52,115 out of 67,118

MIPSTR: a method for multiplex genotyping of germ-line and somatic STR variation across many individuals

• Downloaded 785 times
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  • Site-wide: 11,315 out of 67,118
  • In genomics: 1,630 out of 4,561
• Year to date:
  • Site-wide: 56,580 out of 67,118
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  • Site-wide: 55,497 out of 67,118

Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity

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  • Site-wide: 14,843 out of 67,118
  • In genomics: 1,940 out of 4,561
• Year to date:
  • Site-wide: 39,318 out of 67,118
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  • Site-wide: 25,152 out of 67,118

Functional Characterization of the Morpheus Gene Family

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  • In evolutionary biology: 1,105 out of 4,463
• Year to date:
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  • Site-wide: 28,579 out of 67,118

A hundred genes implicated in intellectual disability and autism regulate habituation learning and reveal an opposing role for Ras-MAPK signaling in inhibitory and excitatory neurons

• Downloaded 569 times
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  • Site-wide: 17,854 out of 67,118
  • In neuroscience: 3,008 out of 12,032
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  • Site-wide: 14,835 out of 67,118
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  • Site-wide: 53,252 out of 67,118

The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders

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  • In neuroscience: 4,316 out of 12,032
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  • Site-wide: 21,470 out of 67,118

The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients

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  • In genetics: 2,873 out of 3,775
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  • Site-wide: 23,797 out of 67,118