Publications by authors named "D W Neklason"
Article Synopsis
- - This study investigates how heritability affects hearing acuity across different frequencies by analyzing 34 family pedigrees from the Utah CEPH, using genomic sequencing and audiometric tests.
- - Results show that heritability decreases as frequency increases, with estimates going from 51% at 250Hz to 30% at 8000Hz, indicating stronger genetic influence at lower frequencies.
- - The genetic correlation between hearing acuity at similar frequencies is high (e.g., 0.80 between 250Hz and 500Hz), while correlations drop significantly between distant frequencies (0.21 between 250Hz and 8000Hz), highlighting the nuanced genetic factors affecting hearing abilities.
Article Synopsis
- Spontaneous preterm birth (SPTB) is a major cause of health issues in newborns and can arise from various unknown genetic factors, prompting the need for better understanding through family studies.
- The research utilized the Utah Population Database to identify large families with multiple cases of early SPTB and focused on seven specific pedigrees for genetic analysis, excluding other known causes of preterm birth.
- The study discovered two significant chromosomal regions related to SPTB, particularly in chromosome 8 (8q24.23), suggesting potential genetic markers for this condition.
Background And Aims: Lynch syndrome (LS) is caused by pathogenic mutations in mismatch repair (MMR) genes. There are limited data on differences in colorectal cancer (CRC) surveillance by MMR genes, and an international consensus on surveillance based on genes is not established. We aimed to evaluate colonoscopy and esophagogastroduodenoscopy (EGD) surveillance outcomes and compare CRC surveillance findings by the mutated gene.
View Article and Find Full Text PDFUsing five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess mutations (DNMs) and recombination. From this family, we estimate an average of 192 DNMs per generation, including 75.5 single-nucleotide variants (SNVs), 7.
View Article and Find Full Text PDFArticle Synopsis
- Patients with serrated polyposis syndrome (SPS) and their first-degree relatives (FDRs) face significantly higher colorectal cancer (CRC) risks, with a 10-fold increase for SPS patients and a 5-fold increase for their FDRs.
- The study utilized a large population database to compare cancer risks between SPS and sporadic sessile serrated lesion (SSL) patients, their relatives, and normal controls, revealing a 2.6-fold increased risk of any-site adenoma/carcinoma in FDRs of SPS patients.
- Although no elevated risks for common extracolonic cancers were found for SPS patients and their families, an increased CRC risk was noted in relatives of individuals with SSL and