Human genomics
Driving precision medicine
On the frontier of human genetics in continuous development. Statistical methods, best practices, and pertinent research techniques. Focused on novel discoveries in human health with specialities in human genetic disease, rare and common disorders, and the interaction of host-pathogen genomics.
Precision medicine
-
Pharmacogenomics for personal medicine
Quantification of pLoF
Pharmacogenomic stargazing
Variant annotation graph
Variant annotation
Variant annotation table
ACMG interpretation standards
Building the future
Evidence finder gene level
Evidence finder variant level
Human Inborn Errors of Immunity
PCA during rare variant analysis with variant collapse
Variant annotation with VEP conda
Evidence builder prototype
Statistics
-
Aggregated Cauchy Association Test (ACAT)
Analysis of methods
Correlation, regression and repeated data
Odds ratios, SE & CI
Receiver operating characteristic plots
Sensitivity and specificity
Bayesian statistics introduction
Burden testing with variant collapse
Fisher's exact test
Upervised learning K-Means clustering
Linear regression
McNemar's test for paired proportions
Multiple linear regression
Principal Components Analysis 1
Principal Components Analysis 2
Quick table unifactorial methods
Sequence kernel association test (SKAT)
STAAR framework - variant-set test using annotation
Statistics books
Immunology
Intelligence topics
Omics
Genomics of rare disease
Bench to market
Public presentation
Portfolio
Blog Posts
- 13 Aug 2023 Summary - inference of causal metabolite networks
- 09 May 2023 What I want from genomic data centers
- 18 Jan 2023 AI - From Complex Requests to Simple Fixes
- 18 Jan 2023 AI, tell me about precision medicine genomics
- 30 Jun 2022 We need a nice rare disease database
- 24 Jun 2022 KZNF protein pathway regulation
- 31 Jan 2022 Reference genome choice
- 21 Sep 2021 Who's afraid of the big bad geneticist?
- 22 Jul 2021 Easy manuscript
- 08 Jul 2021 Credited for a newly added immune gene in IUIS
- 07 Jul 2021 Multiple transcript variant
- 07 Jun 2021 SARS-CoV-2 variants of concern
- 28 May 2021 Historical review of rare immune pathway analysis
- 19 Aug 2019 The devil is in the detail
Highlighted Media
- 07 Feb 2022 Featured commentary on CRACR2A associated immunodeficiency.
- 22 Jan 2022 Highlight video introduction.
- 18 Feb 2021 Credited for a newly added immune gene in Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee,, 2021 TET2 3 patients, 2 families, AR LoF. pdf
- 27 Aug 2020 Podcast: Blood Journal complete TET2 deficiency by Spegarova, Lawless et al.
- 27 Aug 2020 Featured: Human TET2 bridges cancer and immunity, Zhang and Casanova.
- 21 Feb 2019 Featured: RAGs usurp cellular factors for both breaking and repairing.
Maintained by Dylan Lawless. Scientist at EPFL. Resume and Google scholar. RSS feed