Cargando…
Using familial information for variant filtering in high-throughput sequencing studies
High-throughput sequencing studies (HTS) have been highly successful in identifying the genetic causes of human disease, particularly those following Mendelian inheritance. Many HTS studies to date have been performed without utilizing available family relationships between samples. Here, we discuss...
Autores principales: | Bahlo, Melanie, Tankard, Rick, Lukic, Vesna, Oliver, Karen L., Smith, Katherine R. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185103/ https://www.ncbi.nlm.nih.gov/pubmed/25129038 http://dx.doi.org/10.1007/s00439-014-1479-4 |
Ejemplares similares
-
Recent advances in the detection of repeat expansions with short-read next-generation sequencing
por: Bahlo, Melanie, et al.
Publicado: (2018) -
Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family
por: Cameron-Christie, Sophia R., et al.
Publicado: (2018) -
Data-based filtering for replicated high-throughput transcriptome sequencing experiments
por: Rau, Andrea, et al.
Publicado: (2013) -
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery
por: Oliver, Karen L., et al.
Publicado: (2016) -
Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes
por: Oliver, Karen L., et al.
Publicado: (2014)