[HTML][HTML] Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes
Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic
variants and to find novel contributors to human disease. We used gene-based collapsing tests …
variants and to find novel contributors to human disease. We used gene-based collapsing tests …
[HTML][HTML] GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms
…, CB Quenneville, S Tsour, AO Flynn-Carroll… - Nature …, 2021 - nature.com
Understanding mechanisms of hepatocellular damage may lead to new treatments for liver
disease, and genome-wide association studies (GWAS) of alanine aminotransferase (ALT) …
disease, and genome-wide association studies (GWAS) of alanine aminotransferase (ALT) …
[HTML][HTML] Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry
Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively
debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common …
debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common …
[PDF][PDF] Rare coding variants in DNA damage repair genes associated with timing of natural menopause
The age of menopause is associated with fertility and disease risk, and its genetic control is
of great interest. We use whole-exome sequences from 132,370 women in the UK Biobank …
of great interest. We use whole-exome sequences from 132,370 women in the UK Biobank …
Rare coding variants in five DNA damage repair genes associate with timing of natural menopause
The age of menopause is associated with fertility and disease risk, and its genetic control is
of great interest. We used whole-exome sequences from 119,992 women in the UK Biobank …
of great interest. We used whole-exome sequences from 119,992 women in the UK Biobank …
[PDF][PDF] Genome-wide association study of circulating liver enzymes reveals an expanded role for manganese transporter SLC30A10 in liver health
To better understand molecular pathways underlying liver health and disease, we
performed genome-wide association studies (GWAS) on circulating levels of alanine …
performed genome-wide association studies (GWAS) on circulating levels of alanine …
Association of the transthyretin variant V122I with polyneuropathy among individuals of African descent
Introduction Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed,
progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. The …
progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. The …
Gene-level analysis of rare variants in 363,977 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes
Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic
variants and to find novel contributors to human disease. We used gene-based collapsing tests …
variants and to find novel contributors to human disease. We used gene-based collapsing tests …
The V122I Variant in Hereditary Transthyretin-Mediated Amyloidosis is Significantly Associated with Polyneuropathy
Introduction Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressively
debilitating disease caused by mutations in the transthyretin (TTR) gene. The V122I variant, a …
debilitating disease caused by mutations in the transthyretin (TTR) gene. The V122I variant, a …
Repeatable social network node‐based metrics across populations and contexts in a passerine
Behavioural traits are considered animal personality traits when individuals differ consistently
in their expression across time and across context. Here, we test this idea on three metrics …
in their expression across time and across context. Here, we test this idea on three metrics …