Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

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Expect the unexpected: screening for secondary findings in clinical genomics research.Next-generation sequencing in neuromuscular diseases.

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Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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Targeted NGS meets expert clin ...... of spastic paraplegia type 11.

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Targeted NGS meets expert clin ...... of spastic paraplegia type 11.

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Targeted NGS meets expert clin ...... of spastic paraplegia type 11.

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Targeted NGS meets expert clin ...... of spastic paraplegia type 11.

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Cristina Castro-Fernández

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Luis Santomé-Collazo

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Maria-Jesús Sobrido

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P2860

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

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33-36

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scholarly article

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10.1016/J.ATG.2015.05.005

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Angel Carracedo

Jorge Amigo

Manuel Arias

Patricia Blanco-Arias

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2015-06-26T00:00:00Z

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Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

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P2860

P2860

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

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