Annual Review of Genomics and Human Genetics
- The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia)
- Issue Information
- An indel introduced by Neanderthal introgression, rs3835124:ATTTATT > ATT, might contribute to prostate cancer risk by regulating PDK1 expression
- Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea
- A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty
- The effect of TRIM5 variants on the susceptibility to HIV‐1 infection and disease progression in the Polish population
- Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting
- Association of blood lipid profiles and asthma: A bidirectional two‐sample Mendelian randomization study
- Nonsense suppression induces read‐through of a novel BMPR1A variant in a Chinese family with hereditary colorectal cancer
- ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children
- Investigation of the association between the Toll‐like receptor 1 rs4833095 variation and gastric adenocarcinoma recurrence
- Exploring the clinical significance of miR‐148 expression variations in distinct subtypes of irritable bowel syndrome
- A comprehensive review of HVS‐I mitochondrial DNA variation of 19 Iranian populations
- Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder
- Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correlation assessment
- Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR
