What does ExAC mean?
Exome Aggregation Consortium
This goal is what drives the Exome Aggregation Consortium (ExAC), an international coalition of investigators with a focus on data from exome sequencing – an approach that allows us to focus variant discovery on the regions of the genome that encode proteins, known collectively as the exome.
How many exomes in gnomAD?
125,748 exome sequences
About gnomAD 1.1 data set (GRCh37/hg19) provided on this website spans 125,748 exome sequences and 15,708 whole-genome sequences from unrelated individuals sequenced as part of various disease-specific and population genetic studies.
What was the main reason for developing the ExAC browser?
We designed the ExAC browser as an intuitive interface to enable clinical geneticists and biologists to explore variants and genes of interest.
What is the ExAC database?
The ExAC database: one of the most useful resources for the scientific community. ExAC is acronym for Exome Aggregation Consortium, which is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects.
What does pathogenic variant mean?
Listen to pronunciation. (PA-thoh-JEH-nik VAYR-ee-unt) A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder.
Does gnomAD include ExAC?
gnomAD has examined more small variants than the ExAC project (and now also includes structural variants). gnomAD has examined more small variants than the ExAC project (and now also includes structural variants).
What is pLoF in gnomAD?
The classification of LoF variants is a result of a specialized and manual curation of predicted loss-of-function (pLoF) variants that have passed all LOFTEE filters and other QC flags in gnomAD to determine how likely these variants are to result in loss of function.
How big is the exome?
about 30 megabases
The human exome consists of roughly 233,785 exons, about 80% of which are less than 200 base pairs in length, constituting a total of about 1.1% of the total genome, or about 30 megabases of DNA.
What is LRT score?
We defined our LRT score as LRTnew =1 − LRTori × 0.5 if ω<1, or LRTnew = LRTori × 0.5 if ω≥1 to mimic a one-sided p-value. The score ranges from 0 to 1 and a larger score signifies that the codon is more constrained or a NS is more likely to be deleterious.