The pituitary gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone, signal the gonads to regulate male and female fertility. FSH is critical for female fertility as it regulates o
Note: D = damaging; PD = probably damaging; DSA = donor site abolished.#The variation was found in 1000 Genomes database with the Global minor allele frequency (MAF) of G = 0.001/3 so that the pathoge
This dataset is from the paper "Extracting and calibrating evidence of variant pathogenicity from population biobank data", which evaluates the broad potential of using population cohort data as evide
Additional file 1: The performance of Clair-ensemble at target positions using two HG001 sequencing datasets and one HG002 sequencing dataset against the GRCh38 reference genome. The benchmarking resu
