# Genomics and Rare Diseases

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/genomics-and-rare-diseases/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t11642 |
| Works | 282 |

## Topic papers all

Showing 15 of 282.

- [A global reference for human genetic variation](https://scholariq.org/papers/a-global-reference-for-human-genetic-variation/)
- [ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data](https://scholariq.org/papers/annovar-functional-annotation-of-genetic-variants-from-high-throughput/)
- [The mutational constraint spectrum quantified from variation in 141,456 humans](https://scholariq.org/papers/the-mutational-constraint-spectrum-quantified-from-variation-in-141-456-humans/)
- [An integrated map of genetic variation from 1,092 human genomes](https://scholariq.org/papers/an-integrated-map-of-genetic-variation-from-1-092-human-genomes/)
- [A map of human genome variation from population-scale sequencing](https://scholariq.org/papers/a-map-of-human-genome-variation-from-population-scale-sequencing-2/)
- [The International HapMap Project](https://scholariq.org/papers/the-international-hapmap-project/)
- [The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans](https://scholariq.org/papers/the-genotype-tissue-expression-gtex-pilot-analysis-multitissue-gene-regulation/)
- [Classification of primary progressive aphasia and its variants](https://scholariq.org/papers/classification-of-primary-progressive-aphasia-and-its-variants/)
- [FinnGen provides genetic insights from a well-phenotyped isolated population](https://scholariq.org/papers/finngen-provides-genetic-insights-from-a-well-phenotyped-isolated-population/)
- [Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease](https://scholariq.org/papers/cloning-of-a-gene-bearing-missense-mutations-in-early-onset-familial-alzheimer-s/)
- [The repertoire of mutational signatures in human cancer](https://scholariq.org/papers/the-repertoire-of-mutational-signatures-in-human-cancer/)
- [Synaptic, transcriptional and chromatin genes disrupted in autism](https://scholariq.org/papers/synaptic-transcriptional-and-chromatin-genes-disrupted-in-autism/)
- [Detection of large-scale variation in the human genome](https://scholariq.org/papers/detection-of-large-scale-variation-in-the-human-genome/)
- [Mapping genomic loci implicates genes and synaptic biology in schizophrenia](https://scholariq.org/papers/mapping-genomic-loci-implicates-genes-and-synaptic-biology-in-schizophrenia/)
- [OncoKB: A Precision Oncology Knowledge Base](https://scholariq.org/papers/oncokb-a-precision-oncology-knowledge-base/)

## Topic primary papers

Showing 15 of 88.

- [ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data](https://scholariq.org/papers/annovar-functional-annotation-of-genetic-variants-from-high-throughput/)
- [The mutational constraint spectrum quantified from variation in 141,456 humans](https://scholariq.org/papers/the-mutational-constraint-spectrum-quantified-from-variation-in-141-456-humans/)
- [A map of human genome variation from population-scale sequencing](https://scholariq.org/papers/a-map-of-human-genome-variation-from-population-scale-sequencing-2/)
- [The International HapMap Project](https://scholariq.org/papers/the-international-hapmap-project/)
- [Classification of primary progressive aphasia and its variants](https://scholariq.org/papers/classification-of-primary-progressive-aphasia-and-its-variants/)
- [A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes](https://scholariq.org/papers/a-systematic-survey-of-loss-of-function-variants-in-human-protein-coding-genes/)
- [Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study](https://scholariq.org/papers/range-of-genetic-mutations-associated-with-severe-non-syndromic-sporadic/)
- [Evidence for 28 genetic disorders discovered by combining healthcare and research data](https://scholariq.org/papers/evidence-for-28-genetic-disorders-discovered-by-combining-healthcare-and/)
- [Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group](https://scholariq.org/papers/rare-disease-terminology-and-definitions-a-systematic-global-review-report-of/)
- [Whole-genome sequencing of patients with rare diseases in a national health system](https://scholariq.org/papers/whole-genome-sequencing-of-patients-with-rare-diseases-in-a-national-health/)
- [Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency](https://scholariq.org/papers/kabuki-make-up-syndrome-a-syndrome-of-mentalretardation-unusual-facies-large-and/)
- [Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies](https://scholariq.org/papers/genome-wide-mega-analysis-identifies-16-loci-and-highlights-diverse-biological/)
- [Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease](https://scholariq.org/papers/comprehensive-rare-variant-analysis-via-whole-genome-sequencing-to-determine-the/)
- [Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions](https://scholariq.org/papers/enhanced-utility-of-family-centered-diagnostic-exome-sequencing-with-inheritance/)
- [International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases](https://scholariq.org/papers/international-cooperation-to-enable-the-diagnosis-of-all-rare-genetic-diseases/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.