14 results on '"Samantha Baxter"'
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2. P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates
3. P170: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
4. O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
5. P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease
6. P713: Estimating the prevalence of de novo monogenic disorders from gnomAD database
7. P114: Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics
8. P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort
9. P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF
10. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
11. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
12. Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant
13. Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates.
14. Usability of a novel clinician interface for genetic results.
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