Category Archives: Citation

Enriching for Answers in Rare Diseases

Posted on October 2, 2025 by Alex

October 2025 Authors: Yilei Fu, Adam C. English, Luis F. Paulin, Shalini N Jhangiani, George Weissenberger, Vanessa Vee, Yi Han, Heer H. Mehta, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Daniel G. Calame, Fritz J. Sedlazeck Abstract: We … more »

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Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi Arabia

Posted on August 15, 2025 by Alex

August 2025 Authors: Maxat Kulmanov, Saeideh Ashouri, Yang Liu, Marwa Abdelhakim, Ebtehal Alsolme, Masao Nagasaki, Yasuyuki Ohkawa, Yutaka Suzuki, Rund Tawfiq, Katsushi Tokunaga, Toshiaki Katayama, Malak S. Abedalthagafi, Robert Hoehndorf & Yosuke Kawai Abstract: The selection of a reference sequence … more »

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Genome-wide comparative analysis of variability and population structure between autochthonous Turkish chicken breeds and commercial hybrid lines

Posted on July 7, 2025 by Alex

July 2025 Authors: Eymen Demir, Bahar Argun Karsli, Demir Özdemir, Umit Bilginer, Huriye Doğru, Sarp Kaya, Veli Atmaca, Nimet Tufan, Ebru Demir, Taki Karsli Abstract: Next-generation sequencing (NGS) technologies have revolutionized livestock genomics by enabling rapid, high-resolution genotyping of local … more »

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Improved circulating tumor DNA profiling by simultaneous extraction of DNA methylation and copy number information on from Methylated DNA Sequencing data (MeD-seq)

Posted on May 23, 2025 by Alex

May 2025 Authors: Daan M Hazelaar, Ruben G Boers, Joachim B Boers, Vanja de Weerd, Jean Helmijr, Maurice PHM Jansen, Henk MW Verheul, Cornelis Verhoef, Joost Gribnau, John WM Martens, Stavros Makrodimtris, Saskia M Wilting Abstract: Cell-free DNA (cfDNA) analysis … more »

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Chasing non-existent “microRNAs” in cancer

Posted on April 30, 2025 by Alex

April 2025 Authors: Ayla Orang, Nicholas I. Warnock, Melodie Migault, B. Kate Dredge, Andrew G. Bert, Julie M. Bracken, Philip A. Gregory, Katherine A. Pillman, Gregory J. Goodall & Cameron P. Bracken Abstract: “MicroRNAs (miRNAs) are important regulators of gene … more »

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Telomere-to-telomere reference genome reveals subgenome divergence and large structural variants in Capsella bursa-pastoris (Brassicaceae)

Posted on March 30, 2025 by Alex

March 2025 Authors: Xin Liu, Lu Liu, Hai-Fei Yan, Xue-Jun Ge, Hui-Run Huang Abstract: “Capsella is a model genus for studying polyploid speciation and mating system transitions. Here, we report a subgenome-resolved telomere-to-telomere reference genome of Capsella bursa-pastoris, the only … more »

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Integrated analysis of miRNAs and mRNAs in thousands of single cells

Posted on January 30, 2025 by Alex

January 2025 Authors: Jia Li, Jing Tian & Tao Cai Abstract: “The simultaneous sequencing of multiple types of biomolecules can facilitate understanding various forms of regulation occurring in cells. Cosequencing of miRNA and mRNA at single-cell resolution is challenging, and … more »

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Cost-effective and Flexible Preimplantation Genetic Testing (PGT) Using Adaptive Sampling-based Targeted Nanopore Sequencing (ASTN-seq)

Posted on January 21, 2025 by Alex

January 2025 Authors: Zhiqiang Zhang, Shujing He, Taoli Ding, Xiaoyan Liang, Cong Fang, Haitao Zeng, Linan Xu, Xiaolan Li, Lei Jia, Shihui Zhang, Wenlong Su, Peng Sun, Ji Yang, Jun Ren, Sijia Lu, Zi Ren Abstract: “Genetic diseases encompass a … more »

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CFTR haplotype phasing using long-read genome sequencing from ultra-low input DNA

Posted on January 21, 2025 by Alex

January 2025 Authors: Neeru Gandotra, Antariksh Tyagi, Irina Tikhonova, Caroline Storer, Curt Scharfe Abstract: “Purpose: Newborn screening (NBS) identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) … more »

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Integrated analysis of miRNAs and mRNAs in thousands of single cells

Posted on January 21, 2025 by Alex

January 2025 Authors: Jia Li, Jing Tian, Tao Cai Abstract: “The simultaneous sequencing of multiple types of biomolecules can facilitate understanding various forms of regulation occurring in cells. Cosequencing of miRNA and mRNA at single-cell resolution is challenging, and to … more »

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