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3,329 results on '"Exome genetics"'

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1. Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

2. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

3. Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank.

4. Exome capture of Antarctic krill (Euphausia superba) for cost effective genotyping and population genetics with historical collections.

5. Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

6. Exome-wide comparative analyses revealed differentiating genomic regions for performance traits in Indian native buffaloes.

7. Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.

8. Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

9. Joint testing of rare variant burden scores using non-negative least squares.

10. Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.

11. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

12. Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

13. Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.

14. The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

15. Statistics to prioritize rare variants in family-based sequencing studies with disease subtypes.

17. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.

18. Return of genetic research results in 21,532 individuals with autism.

19. Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.

20. Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.

21. Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

22. Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.

23. Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy.

24. Exome Sequencing Starting from Single Cells.

25. Exome Sequencing of a Blastomycosis Case-Control Cohort From Manitoba and Northwestern Ontario, Canada.

26. Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study.

27. Exomic and epigenomic analysis of pulmonary blastoma.

28. Whole exome sequencing reveals diverse genomic relatedness between paired concurrent endometrial and ovarian carcinomas.

29. Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.

30. Genetic influence on scar vascularity after burn injury in individuals of European ancestry: A prospective cohort study.

31. Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data.

32. Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application.

33. Identification of novel genetic variants associated with oral squamous cell carcinoma (OSCC) in South-West coast of India using targeted exome sequencing.

34. Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.

35. Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.

36. Exome-wide association study identifies KDELR3 mutations in extreme myopia.

37. Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

38. Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.

39. Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing.

40. Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.

41. Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.

42. Copy number losses of oncogenes and gains of tumor suppressor genes generate common driver mutations.

43. A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein.

44. Whole exome sequencing analysis identifies genes for alcohol consumption.

45. Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank.

46. Exome sequencing identifies novel genetic variants associated with varicose veins.

47. Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

48. Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

49. The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.

50. Phenotype-Genotype Correlation Applying a Cocktail Approach and an Exome Chip Analysis Reveals Further Variants Contributing to Variation of Drug Metabolism.

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