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Reporting of somatic variants in clinical cancer care: recommendations of the Swiss Society of Molecular Pathology.

• Authors : Christinat, Y.; Hamelin, B.; Alborelli, I.

Subjects: Humans; Consensus; Genetic Testing/methods

• Source: Virchows Archiv, vol. 485, no. 6, pp. 1033-1039

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Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation

• Authors : Mn, Weedon; L, Jackson; Jw, Harrison

Subjects: Humans; Adult; Aged

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A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases

• Authors : College of Medicine; Dept. of Laboratory Medicine; Jung Min Ko

Subjects: Alleles; Computational Biology; DNA Copy Number Variations

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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

• Authors : Nadine Hanna; Tiffany Busa; Mélodie Aubart ...

Subjects: Male; Proband; class 4 and 5 variants

• Source: Genetics in MedicineGenetics in Medicine, 2019, 21 (9), pp.2015-2024. ⟨10.1038/s41436-019-0444-y⟩

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Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

• Authors : Griet Van Buggenhout; Luc Dehaspe; Koen Devriendt ...

Subjects: Adult; 0301 basic medicine; DNA Copy Number Variations

• Source: Genetics in medicine

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Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

• Authors : Rikke Christensen; Henning Andersen; Jens Michael Hertz

Subjects: 0301 basic medicine; congenital, hereditary, and neonatal diseases and abnormalities; Massively parallel sequencing

• Source: Væth, S, Christensen, R, Dunø, M, Lildballe, D L, Thorsen, K, Vissing, J, Svenstrup, K, Hertz, J M, Andersen, H & Jensen, U B 2018, ' Genetic analysis of

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Moving towards personalised therapy in head and neck squamous cell carcinoma through analysis of next generation sequencing data

• Authors : Alfio Ferlito; Alessandra Rinaldo; Juan P. Rodrigo ...

Subjects: 0301 basic medicine; Cancer Research; Disease

• Source: European Journal of Cancer, 55, pp. 147-57European Journal of Cancer, 55, 147-157. PergamonGiefing, M, Wierzbicka, M, Szyfter, K, Brenner, J C, Braakhuis, B J, Brakenhoff, R H, Bradford, C

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Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

• Authors : Luc Dehaspe; Joris Vermeesch; Baran Bayindir ...

Subjects: Placenta; Aneuploidy; Chromosome Disorders

• Source: European Journal of Human Genetics, 23(10), 1286. Nature Publishing Group

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