Article

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

2020-08-13

Abstract excerpt

<h4>ABSTRACT</h4> Current clinical guidelines recommend three genetic tests for the assessment of fetal structural anomalies: karyotype to detect microscopically-visible balanced and unbalanced chromosomal rearrangements, chromosomal microarray (CMA) to detect sub-microscopic copy number variants (CNVs), and exome sequencing (ES) to identify individual nucleotide changes in coding sequence. Advances in genome seq...

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Literature Corpus work: 4a245b74-f8d4-5e4c-b57d-5de6211d9978
DOI: 10.1101/2020.08.12.248526

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