Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders -- problems and possible solutions
Filer, D.; Mieczkowski, P. A.; Brandt, A.; Gilmore, K. L.; Powell, B. C.; Berg, J. S.; Wilhelmsen, K. C.; Vora, N. L.
Show abstract
Whats already known about this topic?O_LISequencing-based noninvasive testing can detect large copy number abnormalities and some auto-somal dominant single-gene disorders C_LIO_LIExome sequencing (ES) on fetal samples provides 20% diagnostic yield for structural abnormalities after normal karyotype & microarray C_LI What does this study add?O_LIES on cell-free DNA in three gravid patients with suspected genetic disease in the fetus C_LIO_LIWe demonstrate broad sequencing approaches are limited by sampling and technical difficulties, concluding broad sequencing is currently inappropriate for noninvasive testing C_LI
Matching journals
The top 5 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Comprehensive phenotyping of 3q29 deletion syndrome: recommendations for clinical care 93%
- One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation 92%
- Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort 92%
Similar papers in this journal
- Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses 94%
- Optical Genome Mapping And Single Nucleotide Polymorphism Microarray: An Integrated Approach For Investigating Challenging Cases Of Products Of Conception 92%
- Evaluation of optical genome mapping in clinical genetic testing of facioscapulohumeral muscular dystrophy 91%
Similar papers in this journal
- Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 91%
- Defining the Critical Educational Components of Informed Consent for Genetic Testing: Views of US-Based Genetic Counselors and Medical Geneticists 90%
- Accurate Fetal Variant Calling in the Presence of Maternal Cell Contamination 89%
Similar papers in this journal
- Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencing 91%
- Next-generation phenotyping in Nigerian children with Cornelia de Lange Syndrome 91%
- Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing 91%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.