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Pregnancy Following Diagnosis of Adrenoleukodystrophy

Background: Adrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system. According to recent epidemiological statistics, up to this moment, the disease is the most recorded peroxisomal disorder. ABCD1 is a gene related to ALD, with more than 850 unique mutations have been reported. Early diagnosis of the disease would help to consult families with ALD to plan for interventions to prevent passing along the pa...
Republic Of Eteläuomen Läi Miriam Iglesias Spectramax Quickdrop European Society For Human Reproduction Preimplantation Genetic Diagnosis Program

Digital-WGS: Automated, highly efficient whole-genome sequencing of single cells by digital microfluidics

Abstract Single-cell whole-genome sequencing (WGS) is critical for characterizing dynamic intercellular changes in DNA. Current sample preparation technologies for single-cell WGS are complex, expensive, and suffer from high amplification bias and errors. Here, we describe Digital-WGS, a sample preparation platform that streamlines high-performance single-cell WGS with automatic processing based on digital microfluidics. Using the method, we provide high single-cell capture efficiency for any a...
National Center National Natural Science Foundation Of China Innovative Research Team Of High Program For Changjiang Scholars Innovative Research Team In University Leica Microsystems Inc

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