Sentence examples for pedigree identified from inspiring English sources

Analysis of the Jutland pedigree identified a disease segregating mutation in CHMP2B (4, 5).

Analysis of the pedigree identified a new homozygous mutation c.1205G > A (p.R402H) in SARS2 gene.

Twenty generations of inbreeding should result in a high-level homozygosis of the diploid genome, but a previous study of this pedigree identified a certain genomic region where a high rate of polymorphism was maintained [ 12].

MOLCOANC software [ 28] was used to reconstruct the pedigree, and QTL mapping using the reconstructed pedigree identified two additional QTLs compared to the raw pedigree (Additional file 1: Figure S4).

Sequence analysis of mtDNA in this pedigree identified the known homoplasmic 4435A>G mutation, which is located at immediately 3′ end to the anticodon, corresponding to the conventional position 37 of tRNAMet, and 41 variants belonging to the Asian haplogroup G2a1.

While the accelerated evolution of AHI1 in the human lineage indicates a role in cognitive (dys)function, a linkage scan in large pedigrees identified AHI1 as a positional candidate for schizophrenia.

Recently, a whole-genome linkage scan in a panel of NB pedigrees identified a significant linkage signal at 2p23-24.

Since 1980, over 4,000 individuals were recruited and sampled in 272 Utah high-risk CRC pedigrees identified in the UPDB.

Multiple cancer predisposition genes have already been identified in high-risk Utah pedigrees identified in the UPDB, including BRCA1, BRCA2, and p16/CDKN2A [ 17- 19].

Recent genome-wide linkage analyses of high-risk Chinese familial NPC pedigrees identified two candidate NPC susceptibility loci, 4p15.1-q12 and 3p21.3, with another suspected locus reported at 5p13-15 [46] [46]– [46].

This resource and the high-risk pedigrees identified within it have been key for the localization and isolation of multiple cancer genes, including CDKN2A (melanoma) [ 17], BRCA1 [ 18], BRCA2 [ 19], and HPC2/ELAC2 (prostate cancer) [ 20].