Sara Lindström

Improving isoform-level eQTL and integrative genetic analyses of breast cancer risk with long-read RNA transcript assemblies

Integrative screening identifies functional variants and VNTRs underlying GWAS signals at the 5p15.33 multi-cancer susceptibility locus

The paper identifies functional variants and VNTRs at the 5p15.33 locus using fine-mapping, MPRA, and CRISPRi screens, revealing their role in cancer susceptibility through antagonistic pleiotropy.

Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level

This study identifies genetic risk mechanisms for six cancers by analyzing isoform-level expression data, finding more associations and greater heritability explained compared to gene-level analysis.

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

This study evaluates breast cancer risks associated with pathogenic variant type and location in BRCA2 and other genes, finding differential risks based on variant position.

StocSum: stochastic summary statistics for whole genome sequencing studies

StocSum generates stochastic summary statistics for whole genome sequencing studies without external reference panels, enabling various genetic analyses and improving utility for underrepresented populations.

A genome-wide association study of mammographic texture variation

This paper identifies genetic loci associated with mammographic texture variation and finds significant genetic correlations with breast cancer risk and mammographic density.

Ancestry-specific maps of GRCh38 linkage disequilibrium blocks for human genome research

The paper creates ancestry-specific linkage disequilibrium block maps for GRCh38, providing updated LD blocks for four populations.

Distal gene regulation mediated by non-coding RNAs contributes to germline risk for breast and prostate cancer

The paper identifies non-coding RNAs that mediate gene expression regulation in breast and prostate tissue and overlap with genetic signals for cancer susceptibility.

Combining genome-wide studies of breast, prostate, ovarian and endometrial cancers maps cross-cancer susceptibility loci and identifies new genetic associations

This study combines genome-wide association data from four cancers to identify shared and novel genetic associations and pleiotropic effects.