Ten years ago, clinicians at several hospitals across the United States began sequencing the genomes of seemingly healthy infants in an attempt to understand how this technology would be able to detect recessive genetic disorders that would not be detected by conventional newborn blood tests. Recently, a team of researchers from BabySeq, the world’s first […]

The result of the Human Genome Project is a recognized "standard" for scientists – the reference genome. Like a coordinate system, researchers can better understand the structure, function, and variation of the human genome against the reference genome. The Human Genome Project began in 1990, the working draft was published in 2001, and the final […]

Since the first human genome was published in 2000, many reference genomes have been assembled successively in various species. However, the highly repetitive sequences (telomeric, mitotic, ribosomal DNA) clustered in the genome have resulted in many missing fragments in the assembled genomes. Fortunately, thanks to improvements in sequencing technologies and computational algorithms, a new era […]

Introduction As one of the organelles that contain their own genome, chloroplasts (cp) are plastids with double membranes and vesicle-like structures. These tiny organelles convert solar energy, synthesize organic matters, and feed almost the entire life on Earth while providing for their own needs. However, it seems that chloroplasts are not satisfied with this, as […]

Mitochondrial diseases (MitD) are an important clinical or medical challenge. Research has shown that genome sequencing can help to enhance the understanding of the genetic causes of MitD and to accelerate the development of functional research, clinical tests and therapeutic tools. What is Mitochondrial Disease? Mitochondria are membrane-bound organelles found in most eukaryotic cells that […]

Introduction to Single Cell Genomics James Eberwine et al. and Iscove and colleagues were the first to sequence an entire transcriptome at the level of a single cell, using linear amplification by in vitro transcription and exponential amplification by PCR, respectively, to expand the complementary DNAs (cDNAs) of a single cell. These methods were first […]

Population Genetics: Definition Population genetics is the study of the genetic makeup of biological populations, as well as the variations in genetic makeup that occur as a result of various factors, such as natural selection Population geneticists, work toward their objectives by creating abstract mathematical models of gene frequency dynamics, attempting to deduce conclusions from […]

The most powerful approach to scan for unspecific germline variations, somatic mutations, and structural variants is high-throughput sequencing. Whole-genome sequencing, exome sequencing, and targeted region sequencing are three of the most common sequencing concepts in DNA sequencing. While highly useful, in different aspects of data collection, computation time, and variant detection precision, sequencing data creates […]

Emerging infectious diseases have the potential to impose enormous mortality, morbidity, and economic burdens on humans. Tracking the spread of infectious diseases to help control them has traditionally relied on the analysis of case data collected during the course of an epidemic or pandemic. Over the last few decades, there has been a few cases […]