The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in …

… D. 1990. Surgical and non-surgical hosн pitalizations for low … Dumitru, D. 1988. The influence
of compensation on recovery … White, AA, VonRogov, P., Zucherн man, J., Heiden, D. 1987. …

… (D) The cumulative number of genes and their strength of evidence as linked to male infertility
phenotypes based the scoring criteria used in this paper, from 1989 to 2020. CNV, copy …

Structural variations of DNA greater than 1 kilobase in size account for most bases that vary
among human genomes, but are still relatively under-ascertained. Here we use tiling …

Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …

Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …

Recent genomic surveys have produced high-resolution haplotype information, but only in a
small number of human populations. We report haplotype structure across 12 Mb of DNA …

Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …

The peroxisome proliferator-activated receptor-γ (PPAR-γ) is a ligand-dependent nuclear
receptor that has been implicated in the modulation of critical aspects of development and …

… in a particular trio was considered to be consistent with a maternal transmitted deletion if all
SNPs were in states A, D or E, or with a paternal deletion if all SNPs were in states B, D or F. …