Next Generation Sequencing in the Clinic

[1] Whole-Genome Sequencing for Optimized Patient Management [J]. SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (87)

[2] Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders [J]. JOURNAL OF MEDICAL GENETICS, 2015, 52 (03) : 208 - U1111

[3] Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient [J]. INDIAN JOURNAL OF PEDIATRICS, 2016, 83 (04) : 354 - 355

[4] Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants [J]. PLOS ONE, 2015, 10 (07):

[5] The usefulness of whole-exome sequencing in routine clinical practice [J]. GENETICS IN MEDICINE, 2014, 16 (12) : 922 - 931

[6] 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 [J]. GENETICS IN MEDICINE, 2015, 17 (05) : 405 - 424

[7] Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth [J]. ORPHANET JOURNAL OF RARE DISEASES, 2015, 10

[8] Watson MS, 2015, GENET MED, V17, DOI [10.1038/gim.2015.94, 10.1038/gim.2014.151]

[1] Whole-Genome Sequencing for Optimized Patient Management [J]. SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (87)

[2] Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders [J]. JOURNAL OF MEDICAL GENETICS, 2015, 52 (03) : 208 - U1111

[3] Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient [J]. INDIAN JOURNAL OF PEDIATRICS, 2016, 83 (04) : 354 - 355

[4] Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants [J]. PLOS ONE, 2015, 10 (07):

[5] The usefulness of whole-exome sequencing in routine clinical practice [J]. GENETICS IN MEDICINE, 2014, 16 (12) : 922 - 931

[6] 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 [J]. GENETICS IN MEDICINE, 2015, 17 (05) : 405 - 424

[7] Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth [J]. ORPHANET JOURNAL OF RARE DISEASES, 2015, 10

[8] Watson MS, 2015, GENET MED, V17, DOI [10.1038/gim.2015.94, 10.1038/gim.2014.151]