Monthly Archives: January 2025

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

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

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

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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