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| Title | First author | Preprint | Publication |
|---|---|---|---|
| Using a chat-based informed consent tool in large-scale genomic research | Sarah K Savage | DOI |
PMID Journal of the American Medical Informatics Association |
| Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data | Moriel Singer-Berk | DOI |
PMID American Journal of Human Genetics |
| Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease | Daniel Calame | DOI |
PMID American Journal of Human Genetics |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions | Monica Wojcik | DOI |
PMID American Journal of Human Genetics |
| Advancing Understanding of Inequities in Rare Disease Genomics | Jillian Serrano | DOI |
PMID Clinical Therapeutics |
| Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis | Seth Berger | DOI |
PMID Clinical Genetics |
| Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features | Morad Ansari | DOI |
|
| Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis | Monica H Wojcik | DOI |
|
| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |
|
| Inferring compound heterozygosity from large-scale exome sequencing data | Michael Guo, Laurent Francioli | DOI |
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| A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service | Ellie Seaby | DOI |