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Showing 1–11 of 11 results
Advanced filters: Author: Cristian Groza Clear advanced filters

  • Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

    • Yang Sui
    • Jiadong Lin
    • Evan E. Eichler
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-16

  • An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.

    • Wen-Wei Liao
    • Mobin Asri
    • Benedict Paten
    ResearchOpen Access
    Nature
    Volume: 617, P: 312-324

  • A pangenomic approach, where genome sequences are related to each other in a graph, facilitates analysis of genomic variation between individuals. Here, the authors explore the benefits of using such an approach to characterize structural variation (e.g., deletions or duplications of more than 50 base pairs) in a rare disease cohort.

    • Cristian Groza
    • Carl Schwendinger-Schreck
    • Tomi Pastinen
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-12

  • Transposable element (TE) activity affects genome structure. Here, authors present GraffiTE, a framework for analysing polymorphic TEs in long reads or assemblies. It combines state-of-the-art variant search, TE annotation, and graph-genotyping, and has proven versatile across eukaryotic models.

    • Cristian Groza
    • Xun Chen
    • Clément Goubert
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-17

  • Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

    • Andrea Guarracino
    • Silvia Buonaiuto
    • Erik Garrison
    ResearchOpen Access
    Nature
    Volume: 617, P: 335-343

  • A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases. Here, we call for coordinated efforts to more precisely define rare diseases.

    • Melissa Haendel
    • Nicole Vasilevsky
    • Tudor I. Oprea
    Comments & Opinion
    Nature Reviews Drug Discovery
    Volume: 19, P: 77-78

  • A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.

    • Mitchell R. Vollger
    • Philip C. Dishuck
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 617, P: 325-334