A Paradigm For Calling Sequence In Families: The Long Life Family Study.


Journal

bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
24 May 2024
Historique:
medline: 3 6 2024
pubmed: 3 6 2024
entrez: 3 6 2024
Statut: epublish

Résumé

Over Several years, we have developed a system for assuring the quality of whole genome sequence (WGS) data in the LLFS families. We have focused on providing data to identify germline genetic variants with the aim of releasing as many variants on as many individuals as possible. We aim to assure the quality of the individual calls. The availability of family data has enabled us to use and validate some filters not commonly used in population-based studies. We developed slightly different procedures for the autosomal, X, Y, and Mitochondrial (MT) chromosomes. Some of these filters are specific to family data, but some can be used with any WGS data set. We also describe the procedure we use to construct linkage markers from the SNP sequence data and how we compute IBD values for use in linkage analysis.

Identifiants

pubmed: 38826248
doi: 10.1101/2024.05.23.595584
pmc: PMC11142154
pii:
doi:

Types de publication

Preprint

Langues

eng

Auteurs

Classifications MeSH