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Small chromosomal structural variants are detected by the meiotic machinery in C. elegans
(2021-05-10)
Heterozygous chromosomal structural variants are widely present in many different organisms. These variants exist in many different forms, including copy number variants, insertions, deletions, and translocations and can ...
Statistical and Machine Learning Methods for Assessing Hardy-Weinberg Equilibrium in Large-Scale Multi-Ethnic Whole Genome Sequencing Studies
(2022-12-05)
Quality control (QC) procedures are essential for analyzing large-scale whole genome sequencing studies (WGS), such as the Trans-Omics for Precision Medicine (TOPMed) Program and the Center for Common Disease Genomics ...
Bayesian Models to Identify Hidden Patterns with Applications in Biology
(2022-08-08)
Technology advances have made possible the generation of massive amounts of data in biology. For example, whole genome sequencing (WGS) has made available (nearly) the entirety of DNA sequences of various organisms. ...
Evolutionary dynamics of deletions removing regulatory features in the human noncoding genome
(2020-10-13)
Genomic deletions provide a powerful loss-of-function model in noncoding regions to assess the role of purifying selection on human noncoding genetic variation. Regulatory element function is characterized by non-uniform ...
Genetic analysis of cell envelope assembly and polar growth in Corynebacterium glutamicum
(2021-07-12)
Increasing our understanding of the mechanisms of bacterial cell envelope biogenesis will help identify novel enzymes for future antibiotic targets. While most current research efforts focus on understanding the mechanisms ...
Suppressors that make the essential transcription factor Spn1/Iws1 dispensable
(2021-09-10)
The conserved process of eukaryotic transcription is regulated by many transcription factors, some of which are essential for viability. Spn1/Iws1 is a conserved protein that is essential for viability and associated with ...
Decoding the function of human variation
(2022-11-23)
Gene regulation is fundamental to the identity and survival of every cell. While less than 2% of the human genome is dedicated to protein-coding sequence, at least 19% of the genome is associated with open chromatin or ...
poly(UG)-tailed RNAs and Transgenerational Epigenetic Inheritance in C. elegans
(2021-03-05)
Small noncoding RNAs (small RNAs) such as Piwi-interacting RNAs (piRNAs), microRNA (miRNAs), and short-interfering RNAs (siRNAs) are important regulators of gene expression. Small RNAs are bound by Argonaute proteins and, ...
Genetic determinants of enhancer function
(2022-05-11)
Sequence variation in enhancers, a class of cis-regulatory elements (CREs) that control cell type-specific gene transcription, contributes significantly to phenotypic variation within human populations, including the risk ...
Integrating Ancient and Modern DNA To Study Human History in South Asia and the Americas
(2020-09-10)
In the last two decades, advances in next-generation sequencing, genome-wide genotyping arrays, and methods to obtain DNA from ancient individuals have propelled the field of population genetics such that it is now an ...