Peer-reviewed · Scientific Reports · 2022
Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions
The work tested whether chromosomal phase — the arrangement of alleles along homologous chromosomes — could improve non-invasive prenatal testing at very low fetal DNA fractions. After in silico validation, the authors re-analysed one such case and conclusively inferred a trisomy 18 fetus that standard testing had left inconclusive.
Genovese et al.
The work tested whether chromosomal phase — the arrangement of alleles along homologous chromosomes — could improve non-invasive prenatal testing at very low fetal DNA fractions. After in silico validation, the authors re-analysed one such case and conclusively inferred a trisomy 18 fetus that standard testing had left inconclusive.
Dante Labs’ involvement
Dante Labs was the source of the high-coverage MPSS (massively parallel shotgun sequencing) data for the parents of the trisomy 18 fetus used in this study: the paper records that these data 'were available through Dante Labs'. The paper reports that the data were generated on the BGISEQ-500 platform in paired-end 100 bp reads. Read throughput for the pregnant mother was 67.7, 76.0, 80.9, 58.7, 57.6, 49.3, 125.4 and 71.6 million read pairs, for a total of 587 million read pairs; read throughput for the father of the fetus was 81.3, 89.3, 63.4, 64.8, 45.9, 83.7, 65.6 and 71.2 million read pairs, for a total of 565 million read pairs.
Beyond the availability of these existing data, the paper describes no further role for Dante Labs and attributes no laboratory work for the study to the company. The paper's reference list cites the Dante Labs website ('We sequence 100% of your DNA – Dante Labs') in support of the data's availability.
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