Lynn B. Jorde

The paper identifies genetic variants associated with placental abnormalities in stillbirths by analyzing exome sequencing data from placental and fetal samples.

The paper investigates mutation and recombination patterns in human acrocentric chromosome short arms using multiple sequencing technologies and a four-generation pedigree.

This study identifies genomic factors influencing tandem repeat mutagenesis using long-read sequencing in a large family, finding that de novo mutations are more common at longer, uninterrupted, and heterozygous loci.

The paper creates a long-read benchmark for genetic variants using a large pedigree, improving variant calling performance and introducing new truth sets for tandem repeats and structural variants.

The paper uses a four-generation family to systematically assess de novo mutations and recombination, finding high mutation rates and paternal bias, along with a detailed recombination map.

The paper estimates the genome-wide de novo STR mutation rate in human pedigrees and identifies factors influencing STR mutation dynamics.

The paper identifies MFN2 mutations in ALS patients and shows they impair mitochondrial function and increase TDP-43 levels in zebrafish models.

The paper analyzes mobile element insertions and structural variants in longitudinal breast cancer samples to assess their timing and impact on tumor progression.

The paper reports de novo structural mutation rates and gamete-of-origin biases using genome sequencing of 2,396 families, finding higher rates in autism cases and paternal origin dominance.

TypeTE improves Alu insertion genotype accuracy from 83% to 92% in the 1000 Genomes dataset by reassembling and re-mapping sequencing data.

The paper estimates human retrotransposition rates for L1, Alu, and SVA elements using WGS data from 33 three-generation pedigrees, finding rates and parent-of-origin effects.

The paper analyzes de novo mutations in three-generation CEPH families to show variability in mutation rates and identifies post-zygotic mosaicism as a source of de novo mutations.

The paper challenges the textbook view of germline mutations by showing that DNA damage and maternal age significantly contribute to mutation rates, with young fathers contributing more mutations than young mothers.

The paper identifies TP73 variants as risk factors for ALS through exome sequencing and functional assays in cell lines and zebrafish.