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View article: Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making Open
Critically ill pediatric patients often have genetic disorders requiring a rapid diagnosis to guide urgent care decisions. Standard genetic testing typically takes weeks and requires multiple tests. Nanopore long-read genome sequencing (LR…
View article: Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study
Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study Open
Objectives To estimate the residual risk of fetal chromosomal aberrations in pregnant women with normal cell‐free DNA (cfDNA) screening results to refine prenatal counseling. Methods A retrospective single‐center study was conducted betwee…
View article: Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools Open
DNA variants affecting pre-mRNA splicing are an important cause of genetic disorders and remain challenging to interpret without experimental data. Although variant classification guidelines recommend experimental characterization of varia…
View article: Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome Open
Treacher Collins syndrome (TCS) is a craniofacial genetic disorder caused by loss of function variants in TCOF1, POLR1B, POLR1C or POLR1D. Here we describe two previously undiagnosed paternal half-siblings affected with clinical TCS, and t…
View article: Chorionic Villus Sampling for Rapid Confirmation of High‐Risk NIPT Results for Trisomy 21, 18, and 13
Chorionic Villus Sampling for Rapid Confirmation of High‐Risk NIPT Results for Trisomy 21, 18, and 13 Open
Objectives International societies recommend amniocentesis (AC) after high‐risk non‐invasive prenatal testing (NIPT) because of potential inconclusive results from chorionic villus sampling (CVS) caused by placental mosaicism. Our study ai…
View article: Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in<i>TCOF1</i>causing Treacher Collins syndrome
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in<i>TCOF1</i>causing Treacher Collins syndrome Open
Treacher Collins syndrome (TCS) is a craniofacial genetic disorder caused by loss of function variants in TCOF1, POLR1B, POLR1C or POLR1D . Here we describe two previously undiagnosed half-siblings affected with clinical TCS, and their app…
View article: Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory
Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory Open
Multiple developmental and congenital disorders due to genetic variants or environmental exposures are associated with unique genome-wide alterations in DNA methylation (DNAm). Consequently, these patterns referred to as DNAm signatures, c…
View article: Figure S1 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Figure S1 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Fluorescent In Situ Hybridization of Pole on metaphase spreads of Pole-mutant cell line
View article: Figure S3 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Figure S3 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Sensitivity to nucleoside analogs cytarabine and fludarabine in Pole S297F-mutant and Pole-wild-type cell lines
View article: Figure S1 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Figure S1 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Fluorescent In Situ Hybridization of Pole on metaphase spreads of Pole-mutant cell line
View article: Table S3 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S3 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Oligonucleotide primer sequences to generate a template for homologous recombination for transfection
View article: Table S1 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S1 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
POLE mutations identified in endometrial cancers in the observation arm of the PORTEC-1 trial
View article: Figure S2 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Figure S2 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Spontaneous mutant frequency of Pole-mutant cell lines
View article: Figure S2 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Figure S2 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Spontaneous mutant frequency of Pole-mutant cell lines
View article: Table S5 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S5 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Sensitivity to adjuvant treatment strategies conferred by Pole proofreading domain mutations in a cell-based model
View article: Supplementary Methods from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Supplementary Methods from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Supplementary Methods
View article: Table S2 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S2 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Oligonucleotide guide RNA sequences to introduce Pole proofreading domain mutations through CRISPR-Cas9
View article: Table S6 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S6 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Sensitivity to nucleoside analogs gemcitabine, cladribine and clofarabine conferred by Pole proofreading domain mutations in a cell-based model
View article: Figure S3 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Figure S3 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Sensitivity to nucleoside analogs cytarabine and fludarabine in Pole S297F-mutant and Pole-wild-type cell lines
View article: Table S4 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S4 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Oligonucleotide sequences to identify targeted colonies after transfection
View article: Table S2 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S2 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Oligonucleotide guide RNA sequences to introduce Pole proofreading domain mutations through CRISPR-Cas9
View article: Table S6 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S6 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Sensitivity to nucleoside analogs gemcitabine, cladribine and clofarabine conferred by Pole proofreading domain mutations in a cell-based model
View article: Data from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Data from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Purpose: Pathogenic POLE proofreading domain mutations are found in many malignancies where they are associated with ultramutation and favorable prognosis. The extent to which this prognosis depends on their sensitivity to ad…
View article: Table S3 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S3 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Oligonucleotide primer sequences to generate a template for homologous recombination for transfection
View article: Table S5 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S5 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Sensitivity to adjuvant treatment strategies conferred by Pole proofreading domain mutations in a cell-based model
View article: Table S1 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S1 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
POLE mutations identified in endometrial cancers in the observation arm of the PORTEC-1 trial
View article: Table S4 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Table S4 from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Oligonucleotide sequences to identify targeted colonies after transfection
View article: Data from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Data from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Purpose: Pathogenic POLE proofreading domain mutations are found in many malignancies where they are associated with ultramutation and favorable prognosis. The extent to which this prognosis depends on their sensitivity to ad…
View article: Supplementary Methods from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Supplementary Methods from Adjuvant Treatment for <i>POLE</i> Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues Open
Supplementary Methods
View article: Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome
Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome Open
The large majority of germline alterations identified in the DNA mismatch repair (MMR) gene PMS2, a low-penetrance gene for the cancer predisposition Lynch syndrome, represent variants of uncertain significance (VUS). The inability to clas…