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   Articles with "sequencing uncovers" as a keyword



Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2 ‐Related Disorder, and Mosaic Jacobs Syndrome

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recommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.70061

Abstract: Rapid Whole Genome Sequencing (rWGS) is increasingly being used in neonatal intensive care units, as there is growing evidence that rare singe gene disorders present in the neonatal period and early identification can change management.… read more here.

Keywords: sequencing uncovers; rapid whole; whole genome; uncovers triple ... See more keywords

RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome families

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recommendations! Published in 2022 at "BMJ Case Reports"

DOI: 10.1136/bcr-2022-249580

Abstract: Despite advances in genetic testing for Lynch syndrome, nearly one quarter of mismatch repair-deficient (MMRd) colorectal and endometrial cancers remain unexplained. When added to germline DNA testing, RNA sequencing can increase diagnostic yield, improve variant… read more here.

Keywords: rna sequencing; msh2 variants; germline; sequencing uncovers ... See more keywords
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Single-Cell RNA Sequencing Uncovers Kidney Tumor Cells of Origin.

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recommendations! Published in 2018 at "Cancer discovery"

DOI: 10.1158/2159-8290.cd-rw2018-141

Abstract: Wilms tumors arise from fetal cells whereas adult tumors arise from proximal convoluted tubular cells. read more here.

Keywords: single cell; uncovers kidney; cell rna; rna sequencing ... See more keywords

Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees

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recommendations! Published in 2025 at "BMC Medical Genomics"

DOI: 10.1186/s12920-024-02078-0

Abstract: To explore possible pathogenic genes for concomitant exotropia using whole-exome sequencing. In this study, 47 individuals from 10 concomitant exotropia (including intermittent exotropia and constant exotropia) pedigrees were enrolled. Whole-exome sequencing was used to screen… read more here.

Keywords: sequencing uncovers; whole exome; exotropia; concomitant exotropia ... See more keywords