Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery

We aim to use whole-genome medical sequencing (WGMS) to discover causative molecular lesions for a set of rare, severe phenotypes hypothesized to be caused by either somatic mutations, germline de nova heterozygous mutations, germline inherited recessive, or germline inherited dominant mutations in currently unknown or uncharacterized genes. The goal of this research is threefold: to identify causative sequence variants for disorders whose molecular etiology was previously unknown, to apply this insight to both the rare disorders under study and more common phenotypes, and to enhance the study of mutation on a genome-wide level.]]>
Participants will be enrolled based on phenotypic findings of genetic disorders with previously unknown molecular etiology.]]>
Version 1: Single Trio, proband with congenital anomalies 031717 Version 2: Fourteen trios, probands with congenital anomalies 082117]]>