This review is an attempt to compile current knowledge on concepts and transformations that
occur naturally in the human body and that characterize what is defined today as biological …

Abstract Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases
that provide variant‐level information and phenotypic features to researchers, clinicians …

Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory
networks, but the exact nature and extent of their involvement in human Mendelian disease …

As whole-genome sequencing (WGS) becomes the gold standard tool for studying
population genomics and medical applications, data on diverse non-European and admixed …

Interpreting the molecular mechanism of genomic variations and their causal relationship
with diseases/traits are important and challenging problems in the human genetic study. To …

Congenital Zika syndrome (CZS) causes early brain development impairment by affecting
neural progenitor cells (NPCs). Here, we analyze NPCs from three pairs of dizygotic twins …

Context Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by
GnRH deficiency. Several genes have been associated with the pathogenesis of CHH, but …

The current study aimed to identify new breast and/or ovarian cancer predisposition genes.
For that, whole‐exome sequencing (WES) was performed in the germline DNA of 52 non …

Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an
elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as …

Given the genomic uniqueness, a local data set is most desired for Indians, who are
underrepresented in existing public databases. We hypothesize patients with rare …