Anna Rohlin
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View article: Interpreting the Effects of DNA Polymerase Variants at the Structural Level
Interpreting the Effects of DNA Polymerase Variants at the Structural Level Open
Genetic variants in the DNA polymerase enzymes POLE and POLD1 can profoundly impact protein function, potentially disrupting stability, catalysis, DNA-binding, and interactions with other molecules. Understanding the structural basis of th…
View article: A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities Open
Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions…
View article: The value of genome-wide analysis in craniosynostosis
The value of genome-wide analysis in craniosynostosis Open
Background: This study assessed the diagnostic yield of high-throughput sequencing methods in a cohort of craniosynostosis (CS) patients not presenting causal variants identified through previous targeted analysis. Methods: Whole-genome or…
View article: Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements
Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements Open
Background: Clinical genetic laboratories often require comprehensive analysis of chromosomal rearrangements/structural variants (SVs) which can range from gross chromosomal events, such as translocations and inversions, to supernumerary r…
View article: 32 Identification of predictive biomarkers of clinical response to PD-1 blockade in patients with advanced non-small cell lung cancer
32 Identification of predictive biomarkers of clinical response to PD-1 blockade in patients with advanced non-small cell lung cancer Open
Background Blockade of PD-1 or PD-L1 (PD-1 blockade) with antibodies has revolutionized treatment options for patients with non-small cell lung cancer particularly with tumors that don't present any targetable mutations. However, the benef…
View article: PB1806: ULTRA-SENSITIVE MINIMAL RESIDUAL DISEASE (MRD) MONITORING FOR LEUKEMIA PATIENTS USING SUPERRCA MUTATION ASSAYS WITH FLOW CYTOMETER READOUT
PB1806: ULTRA-SENSITIVE MINIMAL RESIDUAL DISEASE (MRD) MONITORING FOR LEUKEMIA PATIENTS USING SUPERRCA MUTATION ASSAYS WITH FLOW CYTOMETER READOUT Open
Topic: 3. Acute myeloid leukemia - Biology & Translational Research Background: Rare tumor-specific mutations in patient samples serve as excellent markers to monitor the course of malignant disease and responses to therapy in clinical rou…
View article: Combinatory analysis of immune cell subsets and tumor-specific genetic variants can predict clinical response to PD-1 blockade for non-small cell lung cancer patients
Combinatory analysis of immune cell subsets and tumor-specific genetic variants can predict clinical response to PD-1 blockade for non-small cell lung cancer patients Open
Blockade of PD-1/PDL1 (PD-1 blockade) with antibodies has revolutionized treatment options for non-small cell lung cancer (NSCLC) patients with tumors without targetable mutations. The benefit of PD-1 blockade is limited only to a subset o…
View article: Combinatory analysis of immune cell subsets and tumor-specific genetic variants predict clinical response to PD-1 blockade in patients with non-small cell lung cancer
Combinatory analysis of immune cell subsets and tumor-specific genetic variants predict clinical response to PD-1 blockade in patients with non-small cell lung cancer Open
Objectives Immunotherapy by blocking programmed death protein-1 (PD-1) or programmed death protein-ligand1 (PD-L1) with antibodies (PD-1 blockade) has revolutionized treatment options for patients with non-small cell lung cancer (NSCLC). H…
View article: MAVISp: A Modular Structure-Based Framework for Protein Variant Effects
MAVISp: A Modular Structure-Based Framework for Protein Variant Effects Open
The role of genomic variants in disease has expanded significantly with the advent of advanced sequencing techniques. The rapid increase in identified genomic variants has led to many variants being classified as Variants of Uncertain Sign…
View article: Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort
Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort Open
Approximately 5% of patients with colorectal cancer (CRC) have a Mendelian predisposition for the disease. Identification of the disease‐causing genetic variant enables carrier testing and tailored cancer prevention within affected familie…
View article: The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis
The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis Open
Here, we have studied the prevalence and spectrum of genetic alterations in syndromic forms of sagittal and pansynostosis. Eighteen patients with sagittal synostosis (isolated or combined with other synostoses, except coronal) or pansynost…
View article: Additional file 3 of PΨFinder: a practical tool for the identification and visualization of novel pseudogenes in DNA sequencing data
Additional file 3 of PΨFinder: a practical tool for the identification and visualization of novel pseudogenes in DNA sequencing data Open
Additional file 3: Tables S1–S5. Sequencing data summary statistics and output from PΨFinder of case samples, downsampled data and simulated data. Benchmarking results.
View article: Identification of known and novel familial cancer genes in Swedish colorectal cancer families
Identification of known and novel familial cancer genes in Swedish colorectal cancer families Open
Identifying new candidate colorectal cancer (CRC) genes and mutations are important for clinical cancer prevention as well as in cancer care. Genetic counseling is already implemented for known high‐risk variants; however, the majority of …
View article: Immune checkpoint blockade and biomarkers of clinical response in non–small cell lung cancer
Immune checkpoint blockade and biomarkers of clinical response in non–small cell lung cancer Open
Immunotherapy with PD‐1 and PD‐L1 inhibitors has revolutionized the treatment for patients with NSCLC the last years with increased overall survival and in particular increased number of long‐time survivors in patients with metastatic dise…
View article: Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population Open
Lynch syndrome caused by constitutional mismatch‑repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the…