Browsing by Subject Autism Spectrum Disorder / genetics Datasets as Topic Developmental Disabilities / genetics Disease / genetics* Exons / genetics Female Genotype Haploinsufficiency / genetics* Humans Intellectual Disability / genetics Loss of Function Mutation / genetics* Male Molecular Sequence Annotation* / standards Poisson Distribution RNA, Messenger / analysis RNA, Messenger / genetics Rare Diseases / diagnosis Rare Diseases / genetics Reproducibility of Results Transcription, Genetic* Transcriptome / genetics* Whole Exome Sequencing
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| Issue Date | Title | Author(s) |
|---|---|---|
| 2020 | Transcript expression-aware annotation improves rare variant interpretation | - |