Sökning: "Tuuli Lappalainen"

Hittade 2 avhandlingar innehållade orden Tuuli Lappalainen.

1. 1. Beyond GWAS : Novel Methods and Resources for Genetic Epidemiology

   Författare :Daniel Schmitz; Åsa Johansson; Tuuli Lappalainen; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; GWAS; NGS; long-read sequencing; mendelian randomization; WGS; CNVs;

   Sammanfattning : Since the first human genome assembly’s release, our knowledge of the genetic architecture of complex traits and diseases has grown steadily. Genome-wide association studies (GWAS) played a major role but are limited to common traits and single-nucleotide polymorphisms (SNPs). LÄS MER

3. 2. Elucidation of complex diseases by machine learning

   Författare :Karolina Smolinska Garbulowska; Jan Komorowski; Claes Wadelius; Tuuli Lappalainen; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; machine learning; complex disease; multi-omics; regulatory element; gene regulation; transcription factor motif; networks; rough sets; Bioinformatics; Bioinformatik;

   Sammanfattning : Uncovering the interpretability of models for complex health-related problems is a crucial task that is often neglected in machine learning (ML). The amount of available data makes the problem even more complicated. LÄS MER