Showing papers in "Genetics in Medicine in 2022"

TL;DR: The Gene Curation Coalition (GenCC) as mentioned in this paper developed a unified database to display curated gene-disease validity assertions from its members, which contained 15,241 gene-Disease assertions on 4569 unique genes from 12 submitters.

TL;DR: In this paper , a standard operating procedure (SOP) for the classification of oncogenicity of somatic variants was developed to improve consistency in variants classification and has been validated on 94 variants in 10 common cancer-related genes.

TL;DR: Olipudase alfa was well tolerated and associated with significant and comprehensive improvements in disease pathology and clinically relevant endpoints compared with placebo in adults with acid sphingomyelinase deficiency as discussed by the authors .

TL;DR: The National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution as discussed by the authors , and have participated in a wide range of data sharing activities, including deposition of all eligible CMG data into the Analysis, Visualization, and Informatics Lab-space (AnVIL), sharing candidate genes through the Matchmaker Exchange and the CMG website, and sharing variants in Genotypes to Mendelians Phenotypes (Geno2MP) and VariantMatcher.

TL;DR: In this paper , the diagnostic criteria for neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) were updated by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging.

TL;DR: A comprehensive SOP has been developed to improve consistency in somatic variant classification and has been validated on 94 somatic variants in 10 common cancer-related genes.

TL;DR: The consensus LDLR variant modifications to existing ACMG/AMP guidelines include (1) alteration of population frequency thresholds, (2) delineation of loss-offunction variant types, (3) functional study criteria specifications, (4) cosegregation criteria specifications and (5) specific use and thresholds for in silico prediction tools, among others as discussed by the authors .

TL;DR: Lumasiran showed rapid, sustained reduction in spot UOx:Cr and plasma oxalate and acceptable safety in patients aged <6 years with PH1, establishing RNA interference therapies as safe, effective treatment options for infants and young children as discussed by the authors .

TL;DR: In this article , the authors make the case that a public health agenda is needed to address disparities in implementation of genomics and precision medicine, which can reduce morbidity and mortality for millions of people.

TL;DR: A recent review as mentioned in this paper highlights the possibilities and complexities associated with the re-analysis of existing clinical genomic data, and identifies mechanisms for increasing diagnostic yield and provides perspectives on the range of challenges that must be addressed by health care systems and individual patients.

TL;DR: The Mayo-Baylor RIGHT 10K Study as mentioned in this paper enabled preemptive, sequence-based pharmacogenomics (PGx)-driven drug prescribing practices in routine clinical care within a large cohort.

TL;DR: In this article , Zhang et al. provided comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program, which included short-read exome sequencing and short read genome sequencing (srGS), PacBio HiFi long-read genome sequencing, variant calling for single nucleotide variants (SNV), structural variant (SV), and repeat variants; and machine-learning variant prioritization.

TL;DR: Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care and is a highly accurate screening method for T21, T18, and T13 in both singleton and twin pregnancies.

TL;DR: In this article , the authors estimate the cost-effectiveness of exome sequencing (ES) and genome sequencing (GS) for children, and they find that first-line GS may be the most cost-effective strategy for diagnosing infants with suspected genetic conditions.

TL;DR: In this paper , the DNA methylation profiles of a large cohort of individuals with chromatinopathies was analyzed for episignature detection using an established bioinformatic pipeline.

TL;DR: In this article , a case-control study was used to evaluate breast cancer risk assessment using polygenic risk scores (PRSs), cancer gene panel (n = 33), mammographic density (density residual [DR]), and risk factors collected using a self-completed 2-page questionnaire (Tyrer-Cuzick [TC] model version 8).

TL;DR: In this paper , a systematic evidence review evaluated the performance of noninvasive prenatal screening (NIPS) using cell-free DNA in a general-risk population and concluded that NIPS is a highly accurate screening method for T21, T18, and T13 in both singleton and twin pregnancies.

TL;DR: Empagliflozin showed positive effects on all neutrophil dysfunction-related symptoms, including oral and urogenital mucosal lesions, recurrent infections, skin abscesses, inflammatory bowel disease, and anemia as mentioned in this paper .

TL;DR: Wang et al. as discussed by the authors investigated the genetic factors underlying missing heritability in spinocerebellar ataxia type 17 (SCA17) caused by polyglutamine-encoding CAG/CAA repeat expansions in the TBP gene.

TL;DR: In this article , the authors investigated to what extent polygenic risk scores (PRS), rare pathogenic germline variants (PVs), and family history jointly influence breast cancer and prostate cancer risk.

TL;DR: In this paper , a study aimed to systematically ascertain male sex chromosome abnormalities, 47,XXY (Klinefelter syndrome [KS]) and 47,XYY, and characterize their risks of adverse health outcomes.

TL;DR: This paper developed polygenic risk scores (PRSs) using the largest available studies of Asian ancestry and to assess the transferability of PRS across ethnic subgroups using a clumping and thresholding method, lasso penalized regression, an empirical Bayes approach, a Bayesian polygenic prediction approach, or linear combinations of multiple PRSs.

TL;DR: SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder as mentioned in this paper , which recruited racial/ethnic minorities and rural, medically underserved areas in the Southeastern United States, which are historically underrepresented in genomic medicine research.

TL;DR: In this paper , the results from three diagnostic pipelines in patients with Intellectual Disability (ID) and/or neurodevelopment disorders (NDDs) were compared with several different approaches in clinical genetic diagnostics, and the results strongly suggest that genome analysis outperforms other testing strategies and should replace traditional CMA and FMR1 analysis as a first-line genetic test in individuals with ID/NDD.

TL;DR: In this paper , the authors developed a decision-analytic Markov model including health states for precancer, stage-specific CRC, and death and assumed an inexpensive test cost of $200.