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125 results on '"Karczewski KJ"'

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1. A first update on mapping the human genetic architecture of COVID-19

2. Mapping the human genetic architecture of COVID-19

3. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

4. Evaluating drug targets through human loss-of-function genetic variation (vol 581, pg 459, 2020)

5. Characterising the loss-of-function impact of 5 ' untranslated region variants in 15,708 individuals (vol 11, 2523, 2020)

6. The mutational constraint spectrum quantified from variation in 141,456 humans

7. The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

8. Human loss-of-function variants suggest that partial LRRK2 reduction is not associated with severe disease

9. Evaluating potential drug targets through human loss-of-function genetic variation

10. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

11. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

12. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

13. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

14. The UK10K project identifies rare variants in health and disease

15. Design and implementation of the international genetics and translational research in transplantation network

16. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

17. An integrated encyclopedia of DNA elements in the human genome

18. Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation.

19. A harmonized public resource of deeply sequenced diverse human genomes.

21. The landscape of regional missense mutational intolerance quantified from 125,748 exomes.

23. The evolutionary impact of childhood cancer on the human gene pool.

24. Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.

25. The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes.

26. A genomic mutational constraint map using variation in 76,156 human genomes.

27. Inferring compound heterozygosity from large-scale exome sequencing data.

28. CHARR efficiently estimates contamination from DNA sequencing data.

29. Hematologic setpoints are a stable and patient-specific deep phenotype.

30. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.

31. GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.

32. Inferring compound heterozygosity from large-scale exome sequencing data.

33. Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.

34. Discordant calls across genotype discovery approaches elucidate variants with systematic errors.

35. Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.

36. LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes.

37. Polygenic architecture of rare coding variation across 394,783 exomes.

38. Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.

39. Mono- and biallelic variant effects on disease at biobank scale.

40. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

42. SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.

43. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.

44. A cross-disorder dosage sensitivity map of the human genome.

45. Rare coding variants in ten genes confer substantial risk for schizophrenia.

46. Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

47. Human genetic analyses of organelles highlight the nucleus in age-related trait heritability.

48. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.

49. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

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