Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

@inproceedings{Steinberg2015ExomeSO,
  title={Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS},
  author={Karyn Meltz Steinberg and Bing Yu and Daniel C. Koboldt and Elaine R. Mardis and Roger Pamphlett},
  booktitle={Scientific reports},
  year={2015}
}
The contribution of genetic variants to sporadic amyotrophic lateral sclerosis (ALS) remains largely unknown. Either recessive or de novo variants could result in an apparently sporadic occurrence of ALS. In an attempt to find such variants we sequenced the exomes of 44 ALS-unaffected-parents trios. Rare and potentially damaging compound heterozygous variants were found in 27% of ALS patients, homozygous recessive variants in 14% and coding de novo variants in 27%. In 20% of patients more than… CONTINUE READING
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All appropriate datasets are available in the database of Genotypes and Phenotypes (dbGaP) (accession number phs000831)

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