ArticleCell genomics2024
Utilizing non-invasive prenatal test sequencing data for human genetic investigation.
Article in Cell genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed.
- Omitting post-alignment processing and merging batch-based imputation: an efficient workflow for NIPT data imputation and its application in maternal folate metabolism genotyping.Journal of human genetics · 2026Article
- Genome-wide association analyses of gestational phenotypes identify context-specific genetic effects.Nature genetics · 2026Article
- UK BioCoin: swift trait-specific summary statistics regression for UK Biobank.Nature communications · 2026Article
- cfGWAS reveal genetic basis of cell-free DNA end motifs.Nature communications · 2026Article
- Genomic approaches to understanding pregnancy phenotypes and birth outcomes and their links with long-term maternal and offspring health-the value of distinguishing maternal and fetal genetic effects.Frontiers in genetics · 2026Review
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- Flexible read-aware genotype imputation from sequence using biobank sized reference panels.Nature communications · 2025Article
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- GDBIG: A Pioneering Birth Cohort Genomic Platform Facilitating Intergenerational Genetic Research.Genomics, proteomics & bioinformatics · 2025Article
- Genotype imputation from low-coverage data for medical and population genetic analyses.Genome research · 2025Article
- Genetic architecture and risk prediction of gestational diabetes mellitus in Chinese pregnancies.Nature communications · 2025Article
- Performance evaluation of structural variation detection using DNBSEQ whole-genome sequencing.BMC genomics · 2025Article
- Novel insights into the genetic architecture of pregnancy glycemic traits from 14,744 Chinese maternities.Cell genomics · 2024Article
- A genome-wide association study of neonatal metabolites.Cell genomics · 2024Article
- Genetic analyses of 104 phenotypes in 20,900 Chinese pregnant women reveal pregnancy-specific discoveries.Cell genomics · 2024Article
- Genome-wide association study of maternal plasma metabolites during pregnancy.Cell genomics · 2024Article
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
Non-invasive prenatal testing (NIPT) employs ultra-low-pass sequencing of maternal plasma cell-free DNA to detect fetal trisomy. Its global adoption has established NIPT as a large human genetic resource for exploring genetic variations and their associations with phenotypes. Here, we present methods for analyzing large-scale, low-depth NIPT data, including customized algorithms and software for genetic variant detection, genotype imputation, family relatedness, population structure inference, and genome-wide association analysis of maternal genomes. Our results demonstrate accurate allele frequency estimation and high genotype imputation accuracy (R
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.