Advances in renal genetic diagnosis

@article{Bergmann2017AdvancesIR,
  title={Advances in renal genetic diagnosis},
  author={Carsten Bergmann},
  journal={Cell and Tissue Research},
  year={2017},
  volume={369},
  pages={93-104}
}
Most genetic disorders are clinically and genetically heterogeneous. Next-generation sequencing (NGS) has revolutionized the field and is providing rapidly growing insights into the pathomechanism of hereditary nephropathies. Current best-practice guidelines for most hereditary nephropathies include genetic diagnostics. The increasing number of genes that have to be considered in patients with hereditary nephropathies is often challenging when addressed by conventional techniques and largely… CONTINUE READING
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Guidelines for diagnostic next-generation sequencing

European Journal of Human Genetics • 2016
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