Article

Low Pass Whole Genome sequencing - a cost-effective new technique for the identification of aneuploidies and copy number variations: a study of 1372 clinical samples in an Indian cohort

2025-05-22

Abstract excerpt

<h4>Background</h4> Identification and confirmation of copy number variation is an important aspect of genetic testing for several prenatal scenarios, such as abnormal maternal serum screening, abnormal ultrasound findings, high risk results on non-invasive prenatal screening as well as postnatal settings such as developmental delay, intellectual disabilities, congenital anomalies and dysmorphism as well as in cou...

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Literature Corpus work: 70ab665a-0ff9-5540-bfc1-a0af6c043a1b
DOI: 10.1101/2025.05.18.25327314

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