Baylor Genetics

A global reference for human genetic variation

The Genome Sequence of <i>Drosophila melanogaster</i>

The fly Drosophila melanogaster is one of the most intensively studied organisms in biology and serves as a model system for the investigation of many developmental and cellular...

Chromosome 17 Deletions and p53 Gene Mutations in Colorectal Carcinomas

Previous studies have demonstrated that allelic deletions of the short arm of chromosome 17 occur in over 75% of colorectal carcinomas. Twenty chromosome 17p markers were used t...

Comparative Genomics of the Eukaryotes

A comparative analysis of the genomes of Drosophila melanogaster , Caenorhabditis elegans , and Saccharomyces cerevisiae —and the proteins they are predicted to encode—was under...

The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain

The Wnt-1 (int-1) proto-oncogene, which encodes a putative signaling molecule, is expressed exclusively in the developing central nervous system and adult testes. To examine the...

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A h...

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

A framework for the interpretation of de novo mutation in human disease

Human Genome Sequencing in Health and Disease

Following the “finished,” euchromatic, haploid human reference genome sequence, the rapid development of novel, faster, and cheaper sequencing technologies is making possible th...

The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions

Abstract Next generation exome sequencing (ES) and whole genome sequencing (WGS) are new powerful tools for discovering the gene(s) that underlie Mendelian disorders. To acceler...