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News Release
Researchers developed a technique that will aid in a more accurate reconstruction of human genomes.
… a genome from the much smaller pieces of DNA that sequencing machines are able to read, much like putting … Trio binning takes advantage of the newest generation of sequencing technology that can "read" much longer areas of … a suspected genetic disease, the clinician will order DNA sequencing for their patient to identify where in the genome …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… tested for during pregnancy. New research suggests sequencing all 24 chromosomes to uncover other, rare … Rare Autosomal Trisomies, Revealed by Maternal Plasma DNA Sequencing, Suggest Increased Risk of Feto-Placental Disease … … Extended Analysis Yields Results … Related Content … Sequencing all 24 human chromosomes uncovers rare disorders … …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… gene changes that could be passed on to children Screen newborn babies for certain treatable conditions Genetic test … to help identify fetuses that have certain diseases. Newborn screening is used to test babies one or two days … or to assess responses to treatments. … Genetic Testing, Newborn Screening, Diagnosing A Genetic Condition, Genetic …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… Credit: Ernesto Del Aguila III, NHGRI  Video: Fully sequencing the human genome Credit: Harry Wedel, NHGRI  …
Educational Resources
Translation is the process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein synthesis.
Educational Resources
A birth defect is an abnormality present at birth.
… birth. … Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing … A birth defect (also called a congenital …
Educational Resources
Fraternal twins are also dizygotic twins.
… dizygotic twins. … Genes, Twins, Family Health History, Newborn Screening … Fraternal twins (also called dizygotic …
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… … "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI … physicians already have ordered clinical genome or exome sequencing (CGES) for their patients, Leslie G. Biesecker, … of patients would be getting clinical genome and exome sequencing." Exome sequencing amounts to an abridged version …
Educational Resources
Congenital conditions are those present from birth.
… present from birth. … Birth Defects, Genetic Mutation, Newborn Screening, Genetics, Pregnancy … Congenital refers to …