S1 Leitlinie: Molekulargenetische Diagnostik mit Hochdurchsatz-Verfahren der Keimbahn, beispielsweise mit Next-Generation Sequencing

Calvo et al (2012) Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 4:118ra10

DellaMina et al (2015) Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform. Eur J Hum Genet 23:354–364

Eisenberger et al (2013) Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS ONE 8:e78496

Gargis et al (2012) Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol 30:1033–1036

Gilissen et al (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511:344–347

Green et al (2013) American College of Medical Genetics and Genomics: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15:565e574

Matthijs et al (2016) Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24:2–5

Mook et al (2013) Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. J Med Genet 50:614–626

Nemeth et al (2013) Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 136:3106–3118

Neveling et al (2013) A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 34:1721–1726

Pugh et al (2014) The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 16:601–608

Rehm HL (2013) Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 14:295–300

Rehm et al (2015) ClinGen – the clinical genome resource. N Engl J Med 372:2235–2242

Richards et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and the Association of Molecular Pathology. Genet Med 17:405–424

Schnekenberg et al (2014) Next-generation sequencing in childhood disorders. Arch Dis Child 99:284–290

Sikkema-Raddatz et al (2013) Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat 34:1035–1042

Srivastava S et al (2014) Clinical whole exome sequencing in child neurology practice. Ann Neurol 76:473–483

S2-Leitlinie „Humangenetische Diagnostik und genetische Beratung“, medizinische genetik 2011, 23:281-323, AWMF Registernummer 078 – 015