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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker; Miguel de la Hoya; George A. R. Wiggins dkk.

The American Journal of Human Genetics · 2023 · Inggris · OpenAlex Scopus

15 years of GWAS discovery: Realizing the promise

Abdel Abdellaoui; Loïc Yengo; Karin J. H. Verweij dkk.

The American Journal of Human Genetics · 2023 · Inggris · OpenAlex Scopus

Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort

Florian Privé; Hugues Aschard; Shai Carmi dkk.

The American Journal of Human Genetics · 2022 · Inggris · OpenAlex Scopus

The low portability of polygenic scores (PGSs) across global populations is a major concern that must be addressed before PGSs can be used for everyone in the clinic. Indeed, prediction accuracy has been shown to decay as a function of the genetic distance between the training and test cohorts…

Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches

Verena Zuber; Nastasiya F. Grinberg; Dipender Gill dkk.

The American Journal of Human Genetics · 2022 · Inggris · OpenAlex Scopus

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Vikas Rao Pejaver; Alicia B. Byrne; Bing Feng dkk.

The American Journal of Human Genetics · 2022 · Inggris · OpenAlex Scopus

Recommendations from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants specify the use of computational predictors as "supporting" level of evidence for pathogenicity or benignity using criteria PP3 and…

Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects

Haoran Xue; Xiaotong T. Shen; Wei Pan

The American Journal of Human Genetics · 2021 · Inggris · OpenAlex Scopus

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Christel Depienne; Jean‐Louis Mandel

The American Journal of Human Genetics · 2021 · Inggris · OpenAlex Scopus

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial

Antonio Capalbo; Maurizio Poli; Laura Francesca Rienzi dkk.

The American Journal of Human Genetics · 2021 · Inggris · OpenAlex Scopus

Chromosome imbalance (aneuploidy) is the major cause of pregnancy loss and congenital disorders in humans. Analyses of small biopsies from human embryos suggest that aneuploidy commonly originates during early divisions, resulting in mosaicism. However, the developmental potential of mosaic embryos…

Fast two-stage phasing of large-scale sequence data

Brian L. Browning; Xiaowen Tian; Ying Zhou dkk.

The American Journal of Human Genetics · 2021 · Inggris · OpenAlex Scopus

Optical genome mapping enables constitutional chromosomal aberration detection

Tuomo Mantere; Kornelia Neveling; Céline Pebrel‐Richard dkk.

The American Journal of Human Genetics · 2021 · Inggris · OpenAlex Scopus

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller; Arvis Sulovari; Tianyun Wang dkk.

The American Journal of Human Genetics · 2021 · Inggris · OpenAlex Scopus

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

David Dimmock; Sara A. Caylor; Bryce M. Waldman dkk.

The American Journal of Human Genetics · 2021 · Inggris · OpenAlex Scopus

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert; Yair Anikster; Amaya Bélanger-Quintana dkk.

The American Journal of Human Genetics · 2020 · Inggris · OpenAlex Scopus

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi; Jennifer Kerkhof; Victor P. Pedro dkk.

The American Journal of Human Genetics · 2020 · Inggris · OpenAlex Scopus

The Biology of Cell-free DNA Fragmentation and the Roles of DNASE1, DNASE1L3, and DFFB

Diana Siao Cheng Han; Meng Ni; Rebecca W.Y. Chan dkk.

The American Journal of Human Genetics · 2020 · Inggris · OpenAlex Scopus

Cell-free DNA (cf.DNA) is a powerful noninvasive biomarker for cancer and prenatal testing, and it circulates in plasma as short fragments. To elucidate the biology of cf.DNA fragmentation, we explored the roles of deoxyribonuclease 1 (DNASE1), deoxyribonuclease 1 like 3 (DNASE1L3), and DNA…

Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci

Despoina Manousaki; Ruth E. Mitchell; Tom Dudding dkk.

The American Journal of Human Genetics · 2020 · Inggris · OpenAlex Scopus

Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

Minta Thomas; Lori C. Sakoda; Michael Hoffmeister dkk.

The American Journal of Human Genetics · 2020 · Inggris · OpenAlex Scopus