Pooled-parent exome sequencing to prioritise de novo variants in genetic disease
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Summary
A pooled-parent strategy for exome sequencing of individuals with likely de novo disease is proposed and it is shown that the parent pool is a powerful filter that is complementary to other commonly used variant filters such as population variant frequencies.
- Type
- preprint
- Published
- 2019-04-07
- Cited by
- 2
- References
- 41
- Access
- Open access
- OpenAlex
- https://openalex.org/W2934820384
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:132514291
Keywords
Proband, Exome sequencing, DNA sequencing, Genetics, Exome
References
- Cpipe: a shared variant detection pipeline designed for diagnostic settings
- Exome Pool-Seq in neurodevelopmental disorders
- Pipelines
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- Sequencing pools of individuals — mining genome-wide polymorphism data without big funding
- The Simons Simplex Collection: a resource for identification of autism genetic risk factors.
- Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM
- An integrated map of genetic variation from 1,092 human genomes
- Bpipe: a tool for running and managing bioinformatics pipelines
- De novo mutations in histone modifying genes in congenital heart disease
- A global reference for human genetic variation
- The Sequence Alignment/Map format and SAMtools
- Diagnostic exome sequencing in persons with severe intellectual disability.
- The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
- Increased Frequency of De Novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data
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