DNA sequencing

The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, th

technique in molecular biology

Oligonucleotides are short DNA or RNA molecules, oligomers, that have a wide range of applications in genetic testing, research, and forensics. Commonly made in the laboratory by solid-phase chemical synthesis, these small fragments of nucleic acids can be manufactured as single-stranded molecules with any user-specified sequence, and so are vital for artificial gene synthesis, polymerase chain reaction (PCR), DNA sequencing, molecular cloning and as molecular probes. In nature, oligonucleotides are usually found as small RNA molecules that function in the regulation of gene expression (e.g. m

sequencing all the DNA of an individual at once

method for sequencing random DNA strands

American company that develops systems for the analysis of genetic variation

A scientific instrument used to automate the DNA sequencing process

set of molecular biology methods used to analyze the spatial organization of chromatin in a cell

examines the sequence information from individual cells with optimized next-generation sequencing technologies

method

Chinese life science group that operates multiple research labs and entities in the field of genomics, healthcare, precision medicine, and more

thumb|350x350px|The mechanism of identifying chromatin accessibility using the Tn5 transposase. a Open and closed status of chromatin. b When the chromatin accessibility is increased, the Tn5 transposase transpose in the open chromatin more often than in the inaccessible chromatin. The green/red symbols represents adapters. ATAC-seq (Assay for Transposase-Accessible Chromatin using sequencing) is a laboratory technique used in molecular biology to assess genome-wide chromatin accessibility. The technique was introduced in 2013 by the labs of Will Greenleaf and Howard Chang at Stanford Universi

sequencing of all the exons of a genome

biotechnology company

digital nucleic acid sequence database, assembled by scientists as a representative example of a species' set of genes

short sequence of DNA or cDNA obtained by sequencing

biological theory

technical term used in population genetics

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM (Sequence Alignment/Map), BAM (Binary Alignment/Map) and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA. Both simple and advanced tools are provided, supporting complex tasks like variant calling and alignment viewing as well as sorting, indexing, data extraction and format conversion. SAM files can be very large (tens of Gigabytes is common), so compression is used to save space. SAM files are human-readable text files, an