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One research team, led by Juliane Winkelmann and Thomas Meitinger at the Institute of Human Genetics in Munich, reports in Nature Genetics today that it has found variants in three genes that confer risk for restless syndrome.
PolyPhen-2 categorizes the variants in three groups: benign, possibly damaging, and probably damaging.
FHM belongs to the group of channelopathies and multiple genetic variants in three different genes coding for neuronal ion channels have been identified as causative.
Goes et al. exome sequenced 36 individuals from 8 families and calculated ORs for variants in three genes with association to bipolar disorder in a case control follow-up study (3,541 cases, 4,774 controls).
A combined analysis of variants in three other CD susceptibility genes (CARD15, SLC22A4, SLC22A5) found no evidence for epistasis to IL23R regarding CD susceptibility.
We have performed a screening for the most common autosomal recessive variants in three genes associated with PD (LRRK2, PRKN and ATXN3).
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We report 17 individuals with pathogenic variants in seven of the 27 genes, defining a genetic etiology in 3.2% of this unsolved cohort.
Furthermore, the system detected feline BDV variants in five naturally infected cats and a feline isolate used in experimental infection of cats.
We genotyped ∼200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip).
Genome wide association studies (GWAS) of Schizophrenia (SZ) patients have identified common variants in ten genes including SMARCA2 (Koga et al., HMG, 2009).
We used a curated clinical data set of 74 missense variants in six genes associated with HCM to train and validate an automated predictor.
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CEO of Professional Science Editing for Scientists @ prosciediting.com