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Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.

Scientific reports

Arteche-López A, Ávila-Fernández A, Romero R, Riveiro-Álvarez R, López-Martínez MA, Giménez-Pardo A, Vélez-Monsalve C, Gallego-Merlo J, García-Vara I, Almoguera B, Bustamante-Aragonés A, Blanco-Kelly F, Tahsin-Swafiri S, Rodríguez-Pinilla E, Minguez P, Lorda I, Trujillo-Tiebas MJ, Ayuso C.
PMID: 33707547
Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w.

Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases the turnaround time and costs of clinical diagnosis. We...

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Arteche-López A, Ávila-Fernández A, Romero R, et al. Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes. Sci Rep. 2021;11(1):5697doi: 10.1038/s41598-021-85182-w.
Arteche-López, A., Ávila-Fernández, A., Romero, R., Riveiro-Álvarez, R., López-Martínez, M. A., Giménez-Pardo, A., Vélez-Monsalve, C., Gallego-Merlo, J., García-Vara, I., Almoguera, B., Bustamante-Aragonés, A., Blanco-Kelly, F., Tahsin-Swafiri, S., Rodríguez-Pinilla, E., Minguez, P., Lorda, I., Trujillo-Tiebas, M. J., & Ayuso, C. (2021). Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes. Scientific reports, 11(1), 5697. https://doi.org/10.1038/s41598-021-85182-w
Arteche-López, A, et al. "Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes." Scientific reports vol. 11,1 (2021): 5697. doi: https://doi.org/10.1038/s41598-021-85182-w
Arteche-López A, Ávila-Fernández A, Romero R, Riveiro-Álvarez R, López-Martínez MA, Giménez-Pardo A, Vélez-Monsalve C, Gallego-Merlo J, García-Vara I, Almoguera B, Bustamante-Aragonés A, Blanco-Kelly F, Tahsin-Swafiri S, Rodríguez-Pinilla E, Minguez P, Lorda I, Trujillo-Tiebas MJ, Ayuso C. Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes. Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w. PMID: 33707547; PMCID: PMC7952542.
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Reply to: "Proper reporting of predictor performance".

Nature methods

Kumar S, Ye J, Liu L.
PMID: 25075901
Nat Methods. 2014 Aug;11(8):781-2. doi: 10.1038/nmeth.3039.

No abstract available.

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Kumar S, Ye J, Liu L. Reply to: "Proper reporting of predictor performance". Nat Methods. 2014;11(8):781-2doi: 10.1038/nmeth.3039.
Kumar, S., Ye, J., & Liu, L. (2014). Reply to: "Proper reporting of predictor performance". Nature methods, 11(8), 781-2. https://doi.org/10.1038/nmeth.3039
Kumar, Sudhir, et al. "Reply to: "Proper reporting of predictor performance"." Nature methods vol. 11,8 (2014): 781-2. doi: https://doi.org/10.1038/nmeth.3039
Kumar S, Ye J, Liu L. Reply to: "Proper reporting of predictor performance". Nat Methods. 2014 Aug;11(8):781-2. doi: 10.1038/nmeth.3039. PMID: 25075901.
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Genome sequencing and implications for rare disorders.

Orphanet journal of rare diseases

Posey JE.
PMID: 31234920
Orphanet J Rare Dis. 2019 Jun 24;14(1):153. doi: 10.1186/s13023-019-1127-0.

The practice of genomic medicine stands to revolutionize our approach to medical care, and to realize this goal will require discovery of the relationship between rare variation at each of the ~ 20,000 protein-coding genes and their consequent impact...

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Posey JE. Genome sequencing and implications for rare disorders. Orphanet J Rare Dis. 2019;14(1):153doi: 10.1186/s13023-019-1127-0.
Posey, J. E. (2019). Genome sequencing and implications for rare disorders. Orphanet journal of rare diseases, 14(1), 153. https://doi.org/10.1186/s13023-019-1127-0
Posey, Jennifer E. "Genome sequencing and implications for rare disorders." Orphanet journal of rare diseases vol. 14,1 (2019): 153. doi: https://doi.org/10.1186/s13023-019-1127-0
Posey JE. Genome sequencing and implications for rare disorders. Orphanet J Rare Dis. 2019 Jun 24;14(1):153. doi: 10.1186/s13023-019-1127-0. PMID: 31234920; PMCID: PMC6591893.
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Meeting the challenges of implementing rapid genomic testing in acute pediatric care.

Genetics in medicine : official journal of the American College of Medical Genetics

Stark Z, Lunke S, Brett GR, Tan NB, Stapleton R, Kumble S, Yeung A, Phelan DG, Chong B, Fanjul-Fernandez M, Marum JE, Hunter M, Jarmolowicz A, Prawer Y, Riseley JR, Regan M, Elliott J, Martyn M, Best S, Tan TY, Gaff CL, White SM.
PMID: 29543227
Genet Med. 2018 Dec;20(12):1554-1563. doi: 10.1038/gim.2018.37. Epub 2018 Mar 15.

PURPOSE: The purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers.METHODS: Rapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients with suspected...

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Stark Z, Lunke S, Brett GR, et al. Meeting the challenges of implementing rapid genomic testing in acute pediatric care. Genet Med. 2018;20(12):1554-1563doi: 10.1038/gim.2018.37.
Stark, Z., Lunke, S., Brett, G. R., Tan, N. B., Stapleton, R., Kumble, S., Yeung, A., Phelan, D. G., Chong, B., Fanjul-Fernandez, M., Marum, J. E., Hunter, M., Jarmolowicz, A., Prawer, Y., Riseley, J. R., Regan, M., Elliott, J., Martyn, M., Best, S., Tan, T. Y., Gaff, C. L., White, S. M. (2018). Meeting the challenges of implementing rapid genomic testing in acute pediatric care. Genetics in medicine : official journal of the American College of Medical Genetics, 20(12), 1554-1563. https://doi.org/10.1038/gim.2018.37
Stark, Zornitza, et al. "Meeting the challenges of implementing rapid genomic testing in acute pediatric care." Genetics in medicine : official journal of the American College of Medical Genetics vol. 20,12 (2018): 1554-1563. doi: https://doi.org/10.1038/gim.2018.37
Stark Z, Lunke S, Brett GR, Tan NB, Stapleton R, Kumble S, Yeung A, Phelan DG, Chong B, Fanjul-Fernandez M, Marum JE, Hunter M, Jarmolowicz A, Prawer Y, Riseley JR, Regan M, Elliott J, Martyn M, Best S, Tan TY, Gaff CL, White SM. Meeting the challenges of implementing rapid genomic testing in acute pediatric care. Genet Med. 2018 Dec;20(12):1554-1563. doi: 10.1038/gim.2018.37. Epub 2018 Mar 15. PMID: 29543227.
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The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Schuch JB, Paixão-Côrtes VR, Friedrich DC, Tovo-Rodrigues L.
PMID: 26892727
Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171(3):479-91. doi: 10.1002/ajmg.b.32431. Epub 2016 Feb 19.

Several autism spectrum disorders (ASD) exome studies suggest that coding single nucleotide variants (SNVs) play an important role on ASD etiology. Usually, the pathogenic effect of missense mutations is estimated through predictors that lose accuracy for those SNVs placed...

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Schuch JB, Paixão-Côrtes VR, Friedrich DC, et al. The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies. Am J Med Genet B Neuropsychiatr Genet. 2016;171(3):479-91doi: 10.1002/ajmg.b.32431.
Schuch, J. B., Paixão-Côrtes, V. R., Friedrich, D. C., & Tovo-Rodrigues, L. (2016). The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 171(3), 479-91. https://doi.org/10.1002/ajmg.b.32431
Schuch, Jaqueline Bohrer, et al. "The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies." American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 171,3 (2016): 479-91. doi: https://doi.org/10.1002/ajmg.b.32431
Schuch JB, Paixão-Côrtes VR, Friedrich DC, Tovo-Rodrigues L. The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies. Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171(3):479-91. doi: 10.1002/ajmg.b.32431. Epub 2016 Feb 19. PMID: 26892727.
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Understanding Exome Sequencing: Tips for the Pediatrician.

Indian pediatrics

Narayanan DL, Girisha KM.
PMID: 33634792
Indian Pediatr. 2021 Aug 15;58(8):771-774. Epub 2021 Feb 25.

Exome sequencing is gaining popularity as a genomic test for the diagnosis of Mendelian disorders in children. It is essential for pediatricians to familiarize themselves with this technique and its interpretation. This brief review discusses some of the key...

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Narayanan DL, Girisha KM. Understanding Exome Sequencing: Tips for the Pediatrician. Indian Pediatr. 2021;58(8):771-774
Narayanan, D. L., & Girisha, K. M. (2021). Understanding Exome Sequencing: Tips for the Pediatrician. Indian pediatrics, 58(8), 771-774.
Narayanan, Dhanya Lakshmi, and Girisha, Katta Mohan. "Understanding Exome Sequencing: Tips for the Pediatrician." Indian pediatrics vol. 58,8 (2021): 771-774.
Narayanan DL, Girisha KM. Understanding Exome Sequencing: Tips for the Pediatrician. Indian Pediatr. 2021 Aug 15;58(8):771-774. Epub 2021 Feb 25. PMID: 33634792.
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Showing 13 to 18 of 18 entries