Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Epi4K: Whole Exome Sequencing in Multiplex Families and Pairs

ABSTRACT: Epi4K: Whole Exome Sequencing in Multiplex Families and Pairs

PROVIDER: PRJNA437686 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Whole Exome Sequencing of Multiplex Cleft Families: CIDR

Project description:Whole Exome Sequencing of Multiplex Cleft Families: CIDR

| PRJNA85093 | ENA

CIDR_NINDS_Whole Exome and Targeted Sequencing in Tourette Syndrome Multiplex Families

Project description:CIDR_NINDS_Whole Exome and Targeted Sequencing in Tourette Syndrome Multiplex Families

| PRJNA75925 | ENA

Kids First: Whole genome sequencing studies of multiplex nonsyndromic cleft lip/palate families

Project description:Kids First: Whole genome sequencing studies of multiplex nonsyndromic cleft lip/palate families

| PRJNA768520 | ENA

Kids First: Whole genome sequencing studies of multiplex nonsyndromic cleft lip/palate families

Project description:Kids First: Whole genome sequencing studies of multiplex nonsyndromic cleft lip/palate families

| PRJNA768521 | ENA

Genotyping data for seven patients from three unrelated, consanguineous multiplex families that presented with combined immunodeficiency, and were found to harbour mutations in CARMIL2

Project description:Combined immunodeficiencies are a heterogeneous collection of primary immune disorders that exhibit defects in T cell development or function, along with impaired B cell activity even in light of normal B cell maturation. CARMIL2 (RLTPR) is a protein involved in cytoskeletal organization and cell migration which also plays a role in CD28 co-signaling of T cells. Mutations in this protein have recently been reported to cause a novel primary immunodeficiency disorder with variable phenotypic presentations. Here we deposit genotyping data for seven patients from three unrelated, consanguineous multiplex families that presented with dermatitis, eosophagitis and recurrent skin and chest infections with evidence of combined immunodeficiency. By using this genotyping data to perform autozygome-guided analysis, and coupling it with the results of whole exome sequencing, we uncovered two mutations not previously reported (p.R50T and p.L846Sfs) in CARMIL2.

2018-01-25 | E-MTAB-6440 | biostudies-arrayexpress

CIDR Whole Exome sequencing of multiplex cleft families

Project description:<p>Building upon our previous linkage and association studies, we will use whole exome sequencing studies of second and third degree affected relatives drawn from multiplex families. Our specific aims are: 1) To conduct whole exome sequencing on affected members (2° and 3° relatives) drawn from multiplex cleft families from a consortium to identify novel genes causing non-syndromic oral clefts; 2) To confirm and test the role of rare variants in these novel genes through confirmatory Sanger sequencing, plus linkage information using additional members available in these multiplex families. This whole exome sequencing approach will combine evidence from linkage studies and large scale sequencing to identify novel genes causing oral clefts in multiplex cleft families. </p>

| phs000459 | dbGaP

Next generation rare variant discovery in multiplex AD families

Project description:Next generation rare variant discovery in multiplex AD families

| PRJNA517200 | ENA

Next generation rare variant discovery in multiplex AD families

Project description:Next generation rare variant discovery in multiplex AD families

| PRJNA517199 | ENA